V5M (p.Val5Met) variant of EP300 (Histone acetyltransferase p300)
V5M (p.Val5Met) in EP300 (Histone acetyltransferase p300) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V5M (p.Val5Met) variant details
- p.Val5Met
- gnomAD 22-41093017-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.39
- CADD 28.70
- PolyPhen-2 0.98
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available