L16V (p.Leu16Val) variant of NPHS1 (Nephrin)
L16V (p.Leu16Val) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L16V (p.Leu16Val) variant details
- p.Leu16Val
- Ensembl rs1568457956
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.20
- CADD 8.07
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available