V113I (p.Val113Ile) variant of NPHS1 (Nephrin)
V113I (p.Val113Ile) in NPHS1 (Nephrin) 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.
V113I (p.Val113Ile) variant details
- p.Val113Ile
- TOPMed rs1973251386
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.28
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available