V29M (p.Val29Met) variant of ACAT1 (P24752)
V29M (p.Val29Met) in ACAT1 (P24752) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- ExAC rs764142914
- TOPMed rs764142914
- gnomAD rs764142914
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.11
- REVEL 0.14
- CADD 1.77
- PolyPhen-2 0.07
- SIFT 0.26
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available