A79T (p.Ala79Thr) variant of ETFA (P13804)
A79T (p.Ala79Thr) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
A79T (p.Ala79Thr) variant details
- p.Ala79Thr
- gnomAD rs1179217074
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.76
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 25.10
- PolyPhen-2 0.75
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available