A9D (p.Ala9Asp) variant of NPHS1 (Nephrin)
A9D (p.Ala9Asp) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A9D (p.Ala9Asp) variant details
- p.Ala9Asp
- TOPMed rs1599848663
- gnomAD rs1599848663
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.17
- CADD 14.00
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available