A20V (p.Ala20Val) variant of INSR (Insulin receptor)
A20V (p.Ala20Val) in INSR (Insulin receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A20V (p.Ala20Val) variant details
- p.Ala20Val
- TOPMed rs1449164583
- gnomAD rs1449164583
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.98
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.52
- Most common in the South Asian population (allele frequency 2.4e-05)
- Structural context available