A43T (p.Ala43Thr) variant of ETFA (P13804)
A43T (p.Ala43Thr) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- gnomAD rs1328047712
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.82
- ESM-1b 0.87
- AlphaMissense 0.62
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available