A5V (p.Ala5Val) variant of ACAT1 (P24752)
A5V (p.Ala5Val) 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 0.23 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- rs767448873
- ClinGen CA6262981
- ClinVar RCV003110215
- ExAC rs767448873
- Uncertain significance
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance (in dbSNP:rs3741056)
- UniProt: Uncertain significance (in dbSNP:rs3741056)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available