A22T (p.Ala22Thr) variant of INS (Insulin)
A22T (p.Ala22Thr) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
A22T (p.Ala22Thr) variant details
- p.Ala22Thr
- gnomAD 11-2160908-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.28
- MetaLR 0.82
- MetaSVM 0.28
- CADD 5.00
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available