A90V (p.Ala90Val) variant of NPHS1 (Nephrin)
A90V (p.Ala90Val) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A90V (p.Ala90Val) variant details
- p.Ala90Val
- gnomAD rs1459119408
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.14
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.95
- CADD 15.00
- PolyPhen-2 0.08
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available