L20V (p.Leu20Val) variant of IAPP (Islet amyloid polypeptide)
L20V (p.Leu20Val) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
L20V (p.Leu20Val) variant details
- p.Leu20Val
- TOPMed rs1939944998
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.41
- CADD 18.40
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available