Y28H (p.Tyr28His) variant of ACAT1 (P24752)
Y28H (p.Tyr28His) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
Y28H (p.Tyr28His) variant details
- p.Tyr28His
- ExAC rs775374421
- gnomAD rs775374421
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.12
- CADD 8.64
- PolyPhen-2 0.01
- SIFT 0.46
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available