A12T (p.Ala12Thr) variant of ACAT1 (P24752)
A12T (p.Ala12Thr) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of acetyl-CoA acetyltransferase; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A12T (p.Ala12Thr) variant details
- p.Ala12Thr
- rs764674778
- ClinGen CA6262984
- ClinVar RCV001243860
- ClinVar RCV002564076
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.23
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)