Q9H (p.Gln9His) variant of ETFA (P13804)
Q9H (p.Gln9His) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- gnomAD rs1271666245
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 12.70
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available