H51Y (p.His51Tyr) variant of IAPP (Islet amyloid polypeptide)
H51Y (p.His51Tyr) in IAPP (Islet amyloid polypeptide) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
H51Y (p.His51Tyr) variant details
- p.His51Tyr
- rs369714240
- NCI-TCGA Cosmic COSV9955
- cosmic curated COSV99557
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.03
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.03
- CADD 20.30
- PolyPhen-2 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available