A58V (p.Ala58Val) variant of INS (Insulin)
A58V (p.Ala58Val) in INS (Insulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A58V (p.Ala58Val) variant details
- p.Ala58Val
- ExAC rs770737691
- gnomAD rs770737691
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.70
- CADD 5.18
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available