S104R (p.Ser104Arg) variant of NPHS1 (Nephrin)
S104R (p.Ser104Arg) in NPHS1 (Nephrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
S104R (p.Ser104Arg) variant details
- p.Ser104Arg
- 1000Genomes rs114540811
- ExAC rs114540811
- TOPMed rs114540811
- gnomAD rs114540811
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.26
- CADD 18.80
- PolyPhen-2 0.97
- SIFT 0.02
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available