R13L (p.Arg13Leu) variant of NPHS2 (Podocin)
R13L (p.Arg13Leu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R13L (p.Arg13Leu) variant details
- p.Arg13Leu
- 1000Genomes rs564179614
- ExAC rs564179614
- gnomAD rs564179614
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.34
- CADD 0.29
- PolyPhen-2 0.02
- SIFT 0.17
- Most common in the 1KG:STU population (allele frequency 0.0051)
- Structural context available