A90S (p.Ala90Ser) variant of NPHS1 (Nephrin)
A90S (p.Ala90Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
A90S (p.Ala90Ser) variant details
- p.Ala90Ser
- TOPMed rs1973258948
- Missense
- Variant Prioritization Score for Impact Estimate 0.0585
- REVEL 0.02
- CADD 5.43
- PolyPhen-2 0.00
- SIFT 0.63
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available