V70I (p.Val70Ile) variant of NPHS2 (Podocin)
V70I (p.Val70Ile) in NPHS2 (Podocin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V70I (p.Val70Ile) variant details
- p.Val70Ile
- ExAC rs764956573
- TOPMed rs764956573
- gnomAD rs764956573
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.38
- CADD 20.90
- PolyPhen-2 0.14
- SIFT 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available