A22V (p.Ala22Val) variant of INS (Insulin)
A22V (p.Ala22Val) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- ExAC rs745671341
- gnomAD rs745671341
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.27
- MetaLR 0.86
- MetaSVM 0.47
- CADD 7.27
- PolyPhen-2 0.03
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available