P75S (p.Pro75Ser) variant of NPHS1 (Nephrin)
P75S (p.Pro75Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
P75S (p.Pro75Ser) variant details
- p.Pro75Ser
- TOPMed rs1973260793
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.07
- CADD 22.50
- PolyPhen-2 0.18
- SIFT 0.11
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available