A5V (p.Ala5Val) variant of ETFA (P13804)
A5V (p.Ala5Val) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- 1000Genomes rs575416593
- ExAC rs575416593
- TOPMed rs575416593
- gnomAD rs575416593
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 5.40
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available