F34S (p.Phe34Ser) variant of NPHS1 (Nephrin)
F34S (p.Phe34Ser) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
F34S (p.Phe34Ser) variant details
- p.Phe34Ser
- ExAC rs771678437
- gnomAD rs771678437
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.62
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available