R91G (p.Arg91Gly) variant of NPHS1 (Nephrin)
R91G (p.Arg91Gly) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R91G (p.Arg91Gly) variant details
- p.Arg91Gly
- ExAC rs774932492
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.11
- CADD 21.70
- PolyPhen-2 0.07
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available