D317N (p.Asp317Asn) variant of ACAT1 (P24752)
D317N (p.Asp317Asn) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
D317N (p.Asp317Asn) variant details
- p.Asp317Asn
- rs780486838
- ClinGen CA6263319
- ClinVar RCV000844823
- ExAC rs780486838
- Pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.63
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available