A146T (p.Ala146Thr) variant of KRAS (GTPase KRas)
A146T (p.Ala146Thr) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of RASopathy; Encephalocraniocutaneous lipomatosis; Autoimmune lymphoproliferative. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A146T (p.Ala146Thr) variant details
- p.Ala146Thr
- rs121913527
- ClinGen CA245262
- cosmic curated COSV55501
- ClinVar RCV000178223
- Conflicting interpretations
- RASopathy; Encephalocraniocutaneous lipomatosis; Autoimmune lymphoproliferative
- Missense
- Variant Prioritization Score for Impact Estimate 0.855
- REVEL 0.91
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.01
- CADD 27.20
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (Vascular malformation; Cardiofaciocutaneous syndrome 2; RASopath)
- EBI: Pathogenic (in OES)
- UniProt: Pathogenic (in OES)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block3: score -0.0314
- Cited in: The consensus coding sequences of human breast and colorectal cancers. (PMID 16959974)
- Cited in: Oculoectodermal syndrome: report of a new case with a broad clinical spectrum. (PMID 25251940)