V55L (p.Val55Leu) variant of NPHS1 (Nephrin)
V55L (p.Val55Leu) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V55L (p.Val55Leu) variant details
- p.Val55Leu
- ExAC rs768382806
- TOPMed rs768382806
- gnomAD rs768382806
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available