V14I (p.Val14Ile) variant of KRAS (GTPase KRas)
V14I (p.Val14Ile) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V14I (p.Val14Ile) variant details
- p.Val14Ile
- rs104894365
- ClinGen CA156358
- NCI-TCGA Cosmic COSV5550
- cosmic curated COSV55501
- Pathogenic
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.80
- MetaLR 0.82
- MetaSVM 0.89
- CADD 25.10
- PolyPhen-2 0.83
- SIFT 0.03
- ClinVar: Pathogenic (RASopathy)
- EBI: Pathogenic (in NS3)
- UniProt: Pathogenic (in NS3)
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.981
- Cited in: Germline KRAS mutations cause Noonan syndrome. (PMID 16474405)
- Cited in: Cardiofaciocutaneous Syndrome. (PMID 20301365)