A38T (p.Ala38Thr) variant of INS (Insulin)
A38T (p.Ala38Thr) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
A38T (p.Ala38Thr) variant details
- p.Ala38Thr
- Ensembl rs1564912261
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- REVEL 0.75
- MetaLR 0.70
- MetaSVM 0.29
- CADD 24.10
- PolyPhen-2 0.90
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available