S32N (p.Ser32Asn) variant of NPHS2 (Podocin)
S32N (p.Ser32Asn) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S32N (p.Ser32Asn) variant details
- p.Ser32Asn
- TOPMed rs1273099099
- gnomAD rs1273099099
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.24
- CADD 4.17
- PolyPhen-2 0.02
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available