A6V (p.Ala6Val) variant of ACAT1 (P24752)
A6V (p.Ala6Val) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs1440347190
- gnomAD rs1440347190
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.24
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.37
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available