R25L (p.Arg25Leu) variant of NPPB (Natriuretic peptides B)
R25L (p.Arg25Leu) in NPPB (Natriuretic peptides B) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
R25L (p.Arg25Leu) variant details
- p.Arg25Leu
- rs5227
- ClinGen CA597292
- ClinVar RCV000882537
- UniProt VAR 014580
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0297
- REVEL 0.01
- CADD 0.05
- PolyPhen-2 0.05
- SIFT 0.13
- ClinVar: Benign (not provided)
- EBI: Benign (in dbSNP:rs5227)
- UniProt: Benign (in dbSNP:rs5227)
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.1)
- Structural context available