S10N (p.Ser10Asn) variant of ACAT1 (P24752)
S10N (p.Ser10Asn) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes structural context.
S10N (p.Ser10Asn) variant details
- p.Ser10Asn
- rs886047595
- ClinGen CA10633268
- ClinVar RCV000358143
- TOPMed rs886047595
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.13
- MetaLR 0.58
- MetaSVM -0.39
- PolyPhen-2 0.01
- SIFT 0.51
- MutPred 0.30
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available