V51L (p.Val51Leu) variant of ETFA (P13804)
V51L (p.Val51Leu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
V51L (p.Val51Leu) variant details
- p.Val51Leu
- TOPMed rs2039810228
- Missense
- Variant Prioritization Score for Impact Estimate 0.649
- REVEL 0.63
- ESM-1b 0.31
- AlphaMissense 0.53
- CADD 25.10
- PolyPhen-2 0.57
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available