R3G (p.Arg3Gly) variant of ETFA (P13804)
R3G (p.Arg3Gly) in ETFA (P13804) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- gnomAD rs1475984278
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.51
- ESM-1b 0.78
- AlphaMissense 0.18
- CADD 22.40
- PolyPhen-2 0.04
- SIFT 0.16
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available