G114S (p.Gly114Ser) variant of NPHS1 (Nephrin)
G114S (p.Gly114Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G114S (p.Gly114Ser) variant details
- p.Gly114Ser
- cosmic curated COSV62286
- ExAC rs780271110
- TOPMed rs780271110
- gnomAD rs780271110
- Missense
- Variant Prioritization Score for Impact Estimate 0.0906
- REVEL 0.09
- CADD 5.75
- PolyPhen-2 0.07
- SIFT 0.21
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available