G34R (p.Gly34Arg) variant of NPHS2 (Podocin)
G34R (p.Gly34Arg) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- TOPMed rs1033965843
- gnomAD rs1033965843
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.43
- CADD 1.85
- PolyPhen-2 0.00
- SIFT 0.66
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available