A410V (p.Ala410Val) variant of ACAT1 (P24752)
A410V (p.Ala410Val) in ACAT1 (P24752) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Deficiency of acetyl-CoA acetyltransferase. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
A410V (p.Ala410Val) variant details
- p.Ala410Val
- rs767412638
- ClinGen CA6263411
- ClinVar RCV000341325
- ExAC rs767412638
- Conflicting interpretations
- Deficiency of acetyl-CoA acetyltransferase
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- REVEL 0.88
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Deficiency of acetyl-CoA acetyltransferase)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available