L105F (p.Leu105Phe) variant of NPHS2 (Podocin)
L105F (p.Leu105Phe) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
L105F (p.Leu105Phe) variant details
- p.Leu105Phe
- ExAC rs772151217
- gnomAD rs772151217
- Missense
- Variant Prioritization Score for Impact Estimate 0.748
- REVEL 0.75
- CADD 24.20
- PolyPhen-2 0.39
- SIFT 0.00
- Population evidence available
- Structural context available