G11R (p.Gly11Arg) variant of ACAT1 (P24752)
G11R (p.Gly11Arg) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G11R (p.Gly11Arg) variant details
- p.Gly11Arg
- gnomAD 11-108121637-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.25
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available