Y33C (p.Tyr33Cys) variant of ACAT1 (P24752)
Y33C (p.Tyr33Cys) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
Y33C (p.Tyr33Cys) variant details
- p.Tyr33Cys
- gnomAD 11-108131932-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.61
- CADD 19.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available