L6V (p.Leu6Val) variant of KRAS (GTPase KRas)
L6V (p.Leu6Val) 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 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L6V (p.Leu6Val) variant details
- p.Leu6Val
- rs1296330213
- ClinGen CA384157518
- ClinVar RCV001341946
- gnomAD rs1296330213
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.49
- AlphaMissense 0.41
- MetaLR 0.40
- MetaSVM -0.03
- CADD 23.70
- PolyPhen-2 0.98
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- abundance fitness from abundancePCA of KRAS block1: score -0.626