K117E (p.Lys117Glu) variant of ETFA (P13804)
K117E (p.Lys117Glu) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
K117E (p.Lys117Glu) variant details
- p.Lys117Glu
- ExAC rs771885117
- gnomAD rs771885117
- Missense
- Variant Prioritization Score for Impact Estimate 0.798
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.97
- CADD 26.30
- PolyPhen-2 0.43
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available