V123L (p.Val123Leu) variant of ETFA (P13804)
V123L (p.Val123Leu) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes structural context.
V123L (p.Val123Leu) variant details
- p.Val123Leu
- Ensembl rs886051489
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- ESM-1b 0.00
- AlphaMissense 0.24
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available