V50A (p.Val50Ala) variant of IAPP (Islet amyloid polypeptide)
V50A (p.Val50Ala) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
V50A (p.Val50Ala) variant details
- p.Val50Ala
- gnomAD 12-21378305-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.07
- CADD 8.00
- PolyPhen-2 0.01
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available