D134H (p.Asp134His) variant of ETFA (P13804)
D134H (p.Asp134His) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
D134H (p.Asp134His) variant details
- p.Asp134His
- ESP rs372537478
- TOPMed rs372537478
- gnomAD rs372537478
- Missense
- Variant Prioritization Score for Impact Estimate 0.898
- REVEL 0.95
- ESM-1b 1.00
- AlphaMissense 0.98
- CADD 27.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available