V3L (p.Val3Leu) variant of ACAT1 (P24752)
V3L (p.Val3Leu) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
V3L (p.Val3Leu) variant details
- p.Val3Leu
- gnomAD 11-108121613-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.18
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.03
- CADD 15.80
- PolyPhen-2 0.00
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available
- Literature evidence available