R18G (p.Arg18Gly) variant of ETFA (P13804)
R18G (p.Arg18Gly) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
R18G (p.Arg18Gly) variant details
- p.Arg18Gly
- ExAC rs754202690
- gnomAD rs754202690
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.788
- REVEL 0.77
- ESM-1b 1.00
- AlphaMissense 0.44
- CADD 27.20
- PolyPhen-2 0.96
- SIFT 0.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available