P17H (p.Pro17His) variant of ACAT1 (P24752)
P17H (p.Pro17His) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- gnomAD 11-108121656-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.35
- CADD 15.30
- PolyPhen-2 0.12
- SIFT 0.48
- Population evidence available
- Structural context available
- Literature evidence available