Q102H (p.Gln102His) variant of ETFA (P13804)
Q102H (p.Gln102His) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
Q102H (p.Gln102His) variant details
- p.Gln102His
- gnomAD rs2039775189
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.56
- ESM-1b 1.00
- AlphaMissense 0.29
- CADD 22.70
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available