V32M (p.Val32Met) variant of NPPA (Natriuretic peptides A)
V32M (p.Val32Met) in NPPA (Natriuretic peptides A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; Atrial fibrillation, familial, 6. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data.
V32M (p.Val32Met) variant details
- p.Val32Met
- rs5063
- ClinGen CA597109
- cosmic curated COSV56738
- ClinVar RCV001521904
- Benign
- not provided; Atrial fibrillation, familial, 6
- Missense
- Variant Prioritization Score for Impact Estimate 0.0684
- REVEL 0.06
- CADD 2.38
- PolyPhen-2 0.06
- SIFT 0.23
- ClinVar: Benign (not provided; Atrial fibrillation, familial, 6)
- EBI: Benign (in dbSNP:rs5063)
- UniProt: Benign (in dbSNP:rs5063)
- Most common in the African/African-American population (allele frequency 2.4e-05)