G49D (p.Gly49Asp) variant of ETFA (P13804)
G49D (p.Gly49Asp) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G49D (p.Gly49Asp) variant details
- p.Gly49Asp
- gnomAD rs2039810378
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.56
- ESM-1b 0.00
- AlphaMissense 0.32
- CADD 24.00
- PolyPhen-2 0.73
- SIFT 0.07
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available