V78G (p.Val78Gly) variant of ERCC3 (P19447)
V78G (p.Val78Gly) in ERCC3 (P19447) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
V78G (p.Val78Gly) variant details
- p.Val78Gly
- gnomAD rs1341880081
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.94
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available