A10V (p.Ala10Val) variant of INSR (Insulin receptor)
A10V (p.Ala10Val) in INSR (Insulin receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs1183440326
- gnomAD rs1183440326
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.13
- MetaLR 0.24
- MetaSVM -0.87
- CADD 20.50
- PolyPhen-2 0.50
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available