R71Q (p.Arg71Gln) variant of NPHS2 (Podocin)
R71Q (p.Arg71Gln) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R71Q (p.Arg71Gln) variant details
- p.Arg71Gln
- gnomAD rs1417320743
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.39
- CADD 22.40
- PolyPhen-2 0.19
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available