K117R (p.Lys117Arg) variant of ETFA (P13804)
K117R (p.Lys117Arg) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
K117R (p.Lys117Arg) variant details
- p.Lys117Arg
- 1000Genomes rs200928944
- ExAC rs200928944
- gnomAD rs200928944
- Missense
- Variant Prioritization Score for Impact Estimate 0.693
- REVEL 0.72
- ESM-1b 1.00
- AlphaMissense 0.14
- CADD 28.10
- PolyPhen-2 0.30
- SIFT 0.09
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available