L8M (p.Leu8Met) variant of ACAT1 (P24752)
L8M (p.Leu8Met) in ACAT1 (P24752) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. 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.
L8M (p.Leu8Met) variant details
- p.Leu8Met
- ExAC rs775668624
- TOPMed rs775668624
- gnomAD rs775668624
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.26
- CADD 18.10
- PolyPhen-2 0.23
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available