S46L (p.Ser46Leu) variant of NPHS2 (Podocin)
S46L (p.Ser46Leu) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
S46L (p.Ser46Leu) variant details
- p.Ser46Leu
- gnomAD rs1327842593
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.17
- CADD 7.24
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available