H51N (p.His51Asn) variant of IAPP (Islet amyloid polypeptide)
H51N (p.His51Asn) 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 0.27 / 1. The record also includes structural context.
H51N (p.His51Asn) variant details
- p.His51Asn
- rs369714240
- NCI-TCGA Cosmic COSV9955
- cosmic curated COSV99557
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.03
- PolyPhen-2 0.24
- SIFT 0.01
- MutPred 0.64
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available