I46V (p.Ile46Val) variant of KRAS (GTPase KRas)
I46V (p.Ile46Val) in KRAS (GTPase KRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
I46V (p.Ile46Val) variant details
- p.Ile46Val
- rs2141510457
- ClinGen CA384152393
- ClinVar RCV003654672
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.30
- MetaLR 0.16
- MetaSVM -0.81
- CADD 22.10
- PolyPhen-2 0.06
- SIFT 0.06
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.59