R9C (p.Arg9Cys) variant of ACAT1 (P24752)
R9C (p.Arg9Cys) in ACAT1 (P24752) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R9C (p.Arg9Cys) variant details
- p.Arg9Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.40
- CADD 22.40
- PolyPhen-2 0.18
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available