M193R (p.Met193Arg) variant of ACAT1 (P24752)
M193R (p.Met193Arg) 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 0.84 / 1. The record also includes population frequency data and structural context.
M193R (p.Met193Arg) variant details
- p.Met193Arg
- rs541517496
- ClinGen CA6263156
- ClinVar RCV000844795
- 1000Genomes rs541517496
- Pathogenic/Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available