P81R (p.Pro81Arg) variant of NPHS1 (Nephrin)
P81R (p.Pro81Arg) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
P81R (p.Pro81Arg) variant details
- p.Pro81Arg
- ExAC rs761152159
- TOPMed rs761152159
- gnomAD rs761152159
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.33
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available