G12A (p.Gly12Ala) variant of KRAS (GTPase KRas)
G12A (p.Gly12Ala) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 4; Cardi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs121913529
- ClinGen CA135567
- cosmic curated COSV55497
- ClinVar RCV000038266
- Pathogenic/Likely pathogenic
- Familial cancer of breast; Autoimmune lymphoproliferative syndrome type 4; Cardi
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.84
- MetaLR 0.57
- MetaSVM 0.22
- CADD 25.00
- PolyPhen-2 0.60
- SIFT 0.11
- ClinVar: Pathogenic/Likely pathogenic (Familial cancer of breast; Autoimmune lymphoproliferative syndro)
- EBI: Pathogenic (in colorectal cancer samples)
- UniProt: Pathogenic (in colorectal cancer samples)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.217
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: KRAS A146 Mutations Are Associated With Distinct Clinical Behavior in Patients With Colorectal Liver Metastases. (PMID 34820593)