R31W (p.Arg31Trp) variant of ACAT1 (P24752)
R31W (p.Arg31Trp) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
R31W (p.Arg31Trp) variant details
- p.Arg31Trp
- rs199952982
- ClinGen CA220231
- cosmic curated COSV54921
- ClinVar RCV000077935
- Uncertain significance
- not provided; Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.73
- CADD 25.60
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available