V63G (p.Val63Gly) variant of ETFA (P13804)
V63G (p.Val63Gly) in ETFA (P13804) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V63G (p.Val63Gly) variant details
- p.Val63Gly
- gnomAD rs1231262303
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.80
- ESM-1b 1.00
- AlphaMissense 0.47
- CADD 33.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available