R38G (p.Arg38Gly) variant of NPHS2 (Podocin)
R38G (p.Arg38Gly) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- ExAC rs767644222
- TOPMed rs767644222
- gnomAD rs767644222
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.32
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available