V8L (p.Val8Leu) variant of IAPP (Islet amyloid polypeptide)
V8L (p.Val8Leu) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
V8L (p.Val8Leu) variant details
- p.Val8Leu
- gnomAD 12-21373373-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.12
- CADD 5.59
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available