A2V (p.Ala2Val) variant of NPHS1 (Nephrin)
A2V (p.Ala2Val) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- TOPMed rs1973273450
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.11
- CADD 17.10
- PolyPhen-2 0.08
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available