D88E (p.Asp88Glu) variant of NPHS1 (Nephrin)
D88E (p.Asp88Glu) in NPHS1 (Nephrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D88E (p.Asp88Glu) variant details
- p.Asp88Glu
- rs1973259133
- ClinGen CA405411301
- ClinVar RCV003728254
- Ensembl rs1973259133
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.14
- CADD 22.40
- PolyPhen-2 0.57
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available