T178A (p.Thr178Ala) variant of ETFA (P13804)
T178A (p.Thr178Ala) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
T178A (p.Thr178Ala) variant details
- p.Thr178Ala
- Ensembl rs2039705075
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 10.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available