G54R (p.Gly54Arg) variant of NPHS1 (Nephrin)
G54R (p.Gly54Arg) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
G54R (p.Gly54Arg) variant details
- p.Gly54Arg
- ExAC rs774170395
- gnomAD rs774170395
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.24
- CADD 22.70
- PolyPhen-2 0.91
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available