R31Q (p.Arg31Gln) variant of ACAT1 (P24752)
R31Q (p.Arg31Gln) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
R31Q (p.Arg31Gln) variant details
- p.Arg31Gln
- cosmic curated COSV54921
- ExAC rs765645574
- TOPMed rs765645574
- gnomAD rs765645574
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.66
- CADD 27.10
- PolyPhen-2 0.66
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available