V67M (p.Val67Met) variant of NPHS2 (Podocin)
V67M (p.Val67Met) in NPHS2 (Podocin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V67M (p.Val67Met) variant details
- p.Val67Met
- TOPMed rs1363776277
- gnomAD rs1363776277
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.39
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available