V24E (p.Val24Glu) variant of ETFA (P13804)
V24E (p.Val24Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
V24E (p.Val24Glu) variant details
- p.Val24Glu
- TOPMed rs979879737
- Missense
- Variant Prioritization Score for Impact Estimate 0.863
- REVEL 0.97
- ESM-1b 1.00
- AlphaMissense 0.99
- CADD 29.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available