P81L (p.Pro81Leu) variant of NPHS1 (Nephrin)
P81L (p.Pro81Leu) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
P81L (p.Pro81Leu) variant details
- p.Pro81Leu
- ExAC rs761152159
- TOPMed rs761152159
- gnomAD rs761152159
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.24
- CADD 24.00
- PolyPhen-2 0.64
- SIFT 0.07
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available