L7V (p.Leu7Val) variant of NPHS1 (Nephrin)
L7V (p.Leu7Val) 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.
L7V (p.Leu7Val) variant details
- p.Leu7Val
- 1000Genomes rs202032966
- gnomAD rs202032966
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.23
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.68
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available