S46W (p.Ser46Trp) variant of NPHS2 (Podocin)
S46W (p.Ser46Trp) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
S46W (p.Ser46Trp) variant details
- p.Ser46Trp
- gnomAD rs1327842593
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.37
- CADD 15.00
- PolyPhen-2 0.26
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available