N47D (p.Asn47Asp) variant of IAPP (Islet amyloid polypeptide)
N47D (p.Asn47Asp) 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 0.35 / 1. The record also includes population frequency data and structural context.
N47D (p.Asn47Asp) variant details
- p.Asn47Asp
- NCI-TCGA Cosmic COSV9955
- cosmic curated COSV99557
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.07
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available