S95F (p.Ser95Phe) variant of NPHS2 (Podocin)
S95F (p.Ser95Phe) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S95F (p.Ser95Phe) variant details
- p.Ser95Phe
- rs1187796947
- ClinGen CA343571128
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10085
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.48
- CADD 24.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available