A22D (p.Ala22Asp) variant of INS (Insulin)
A22D (p.Ala22Asp) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A22D (p.Ala22Asp) variant details
- p.Ala22Asp
- cosmic curated COSV51748
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.44
- MetaLR 0.88
- MetaSVM 0.60
- CADD 7.49
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available