R47C (p.Arg47Cys) variant of NPPB (Natriuretic peptides B)
R47C (p.Arg47Cys) in NPPB (Natriuretic peptides B) 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 population frequency data and structural context.
R47C (p.Arg47Cys) variant details
- p.Arg47Cys
- rs777621972
- NCI-TCGA Cosmic COSV6468
- ExAC rs777621972
- TOPMed rs777621972
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.05
- CADD 21.20
- PolyPhen-2 0.09
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact. (in dbSNP:rs5229)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available