D88H (p.Asp88His) variant of NPHS1 (Nephrin)
D88H (p.Asp88His) in NPHS1 (Nephrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
D88H (p.Asp88His) variant details
- p.Asp88His
- gnomAD rs1246225340
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.30
- CADD 23.40
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available