K117R (p.Lys117Arg) variant of KRAS (GTPase KRas)
K117R (p.Lys117Arg) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Linear nevus sebaceous syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K117R (p.Lys117Arg) variant details
- p.Lys117Arg
- NCI-TCGA Cosmic COSV5593
- cosmic curated COSV55937
- Likely pathogenic
- Linear nevus sebaceous syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.88
- MetaLR 0.94
- MetaSVM 1.10
- CADD 27.90
- PolyPhen-2 0.86
- SIFT 0.02
- ClinVar: Likely pathogenic (Linear nevus sebaceous syndrome)
- UniProt: Likely pathogenic (in colorectal cancer samples)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- binding fitness from KRAS-DARPin K27 bindingPCA of KRAS block2: score 0.312