R15L (p.Arg15Leu) variant of NPHS2 (Podocin)
R15L (p.Arg15Leu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R15L (p.Arg15Leu) variant details
- p.Arg15Leu
- gnomAD rs1347576607
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.42
- CADD 17.10
- PolyPhen-2 0.07
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 5e-05)
- Structural context available