R52C (p.Arg52Cys) variant of NPHS1 (Nephrin)
R52C (p.Arg52Cys) in NPHS1 (Nephrin) 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 0.21 / 1. The record also includes population frequency data and structural context.
R52C (p.Arg52Cys) variant details
- p.Arg52Cys
- rs1431747804
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10080
- gnomAD rs1431747804
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.62
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available