V67L (p.Val67Leu) variant of NPHS2 (Podocin)
V67L (p.Val67Leu) in NPHS2 (Podocin) 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.
V67L (p.Val67Leu) variant details
- p.Val67Leu
- TOPMed rs1363776277
- gnomAD rs1363776277
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.37
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available