R91I (p.Arg91Ile) variant of NPHS1 (Nephrin)
R91I (p.Arg91Ile) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R91I (p.Arg91Ile) variant details
- p.Arg91Ile
- gnomAD rs1256453272
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.15
- CADD 14.60
- PolyPhen-2 0.35
- SIFT 0.04
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available