A12S (p.Ala12Ser) variant of ACAT1 (P24752)
A12S (p.Ala12Ser) in ACAT1 (P24752) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A12S (p.Ala12Ser) variant details
- p.Ala12Ser
- 1000Genomes rs764674778
- ExAC rs764674778
- TOPMed rs764674778
- gnomAD rs764674778
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.28
- CADD 9.69
- PolyPhen-2 0.00
- SIFT 0.61
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available