R9H (p.Arg9His) variant of ACAT1 (P24752)
R9H (p.Arg9His) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- gnomAD 11-108121632-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.28
- CADD 14.80
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available