G111E (p.Gly111Glu) variant of ETFA (P13804)
G111E (p.Gly111Glu) 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.
G111E (p.Gly111Glu) variant details
- p.Gly111Glu
- cosmic curated COSV51211
- gnomAD rs1486391905
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 26.80
- PolyPhen-2 0.97
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available