V6G (p.Val6Gly) variant of EP300 (Histone acetyltransferase p300)
V6G (p.Val6Gly) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V6G (p.Val6Gly) variant details
- p.Val6Gly
- Ensembl rs2145665458
- Missense
- Variant Prioritization Score for Impact Estimate 0.596
- REVEL 0.54
- CADD 29.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available