A6P (p.Ala6Pro) variant of ACAT1 (P24752)
A6P (p.Ala6Pro) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
A6P (p.Ala6Pro) variant details
- p.Ala6Pro
- TOPMed rs1050634424
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.39
- CADD 18.10
- PolyPhen-2 0.14
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available