A12V (p.Ala12Val) variant of ACAT1 (P24752)
A12V (p.Ala12Val) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
A12V (p.Ala12Val) variant details
- p.Ala12Val
- gnomAD 11-108121641-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.20
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available