S12F (p.Ser12Phe) variant of NPHS2 (Podocin)
S12F (p.Ser12Phe) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S12F (p.Ser12Phe) variant details
- p.Ser12Phe
- 1000Genomes rs2101887766
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.39
- CADD 20.40
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available