S10R (p.Ser10Arg) variant of ACAT1 (P24752)
S10R (p.Ser10Arg) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S10R (p.Ser10Arg) variant details
- p.Ser10Arg
- gnomAD rs1337885330
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.21
- CADD 13.40
- PolyPhen-2 0.00
- SIFT 0.60
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available