R9S (p.Arg9Ser) variant of ACAT1 (P24752)
R9S (p.Arg9Ser) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- gnomAD 11-108121631-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.35
- CADD 19.10
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available