D134G (p.Asp134Gly) variant of ETFA (P13804)
D134G (p.Asp134Gly) in ETFA (P13804) is a missense change. Clinical records from ClinVar 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 0.85 / 1. The record also includes population frequency data and structural context.
D134G (p.Asp134Gly) variant details
- p.Asp134Gly
- 1000Genomes rs562001197
- ExAC rs562001197
- gnomAD rs562001197
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.92
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available