R52H (p.Arg52His) variant of NPHS1 (Nephrin)
R52H (p.Arg52His) 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 0.12 / 1. The record also includes population frequency data and structural context.
R52H (p.Arg52His) variant details
- p.Arg52His
- rs771076402
- ClinGen CA9390894
- ClinVar RCV002627824
- ExAC rs771076402
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.14
- CADD 5.34
- PolyPhen-2 0.37
- SIFT 0.03
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available