L8V (p.Leu8Val) variant of ACAT1 (P24752)
L8V (p.Leu8Val) 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 0.21 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- ExAC rs775668624
- TOPMed rs775668624
- gnomAD rs775668624
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.213
- REVEL 0.24
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.11
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available