A23V (p.Ala23Val) variant of INS (Insulin)
A23V (p.Ala23Val) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
A23V (p.Ala23Val) variant details
- p.Ala23Val
- gnomAD 11-2160904-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.41
- MetaLR 0.79
- MetaSVM 0.08
- CADD 0.97
- PolyPhen-2 0.00
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available