R13S (p.Arg13Ser) variant of ACAT1 (P24752)
R13S (p.Arg13Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- TOPMed rs1211329032
- gnomAD rs1211329032
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.44
- CADD 10.70
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available