A65D (p.Ala65Asp) variant of NPHS1 (Nephrin)
A65D (p.Ala65Asp) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
A65D (p.Ala65Asp) variant details
- p.Ala65Asp
- cosmic curated COSV62287
- ExAC rs745815470
- gnomAD rs745815470
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.26
- CADD 25.30
- PolyPhen-2 0.65
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available