R32W (p.Arg32Trp) variant of NPHS1 (Nephrin)
R32W (p.Arg32Trp) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R32W (p.Arg32Trp) variant details
- p.Arg32Trp
- rs148104086
- ClinGen CA9390914
- ClinVar RCV003573358
- ESP rs148104086
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.47
- CADD 25.80
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available