M193T (p.Met193Thr) variant of ACAT1 (P24752)
M193T (p.Met193Thr) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
M193T (p.Met193Thr) variant details
- p.Met193Thr
- rs541517496
- ClinGen CA382507358
- ClinVar RCV000844794
- 1000Genomes rs541517496
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.83
- REVEL 0.95
- CADD 28.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available