N353K (p.Asn353Lys) variant of ACAT1 (P24752)
N353K (p.Asn353Lys) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
N353K (p.Asn353Lys) variant details
- p.Asn353Lys
- rs1591374629
- ClinGen CA382508452
- ClinVar RCV000844835
- Ensembl rs1591374629
- Likely pathogenic
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- REVEL 0.86
- CADD 22.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available