R88Q (p.Arg88Gln) variant of NPHS2 (Podocin)
R88Q (p.Arg88Gln) 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.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- Ensembl rs1674728356
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.25
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.30
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available