L7R (p.Leu7Arg) variant of NPHS1 (Nephrin)
L7R (p.Leu7Arg) 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.
L7R (p.Leu7Arg) variant details
- p.Leu7Arg
- ExAC rs765269906
- TOPMed rs765269906
- gnomAD rs765269906
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.22
- CADD 5.70
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the South Asian population (allele frequency 0.00018)
- Structural context available