G30A (p.Gly30Ala) variant of EP300 (Histone acetyltransferase p300)
G30A (p.Gly30Ala) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
G30A (p.Gly30Ala) variant details
- p.Gly30Ala
- Ensembl rs2145665820
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.26
- CADD 25.20
- PolyPhen-2 0.78
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available