D74N (p.Asp74Asn) variant of NPHS1 (Nephrin)
D74N (p.Asp74Asn) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
D74N (p.Asp74Asn) variant details
- p.Asp74Asn
- 1000Genomes rs557710851
- ExAC rs557710851
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- REVEL 0.03
- CADD 15.50
- PolyPhen-2 0.02
- SIFT 0.32
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available