R13C (p.Arg13Cys) variant of ACAT1 (P24752)
R13C (p.Arg13Cys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- gnomAD 11-108121643-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.31
- CADD 13.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available