P81S (p.Pro81Ser) variant of NPHS1 (Nephrin)
P81S (p.Pro81Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P81S (p.Pro81Ser) variant details
- p.Pro81Ser
- gnomAD rs1434933933
- Missense
- Variant Prioritization Score for Impact Estimate 0.466
- REVEL 0.25
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available