S14R (p.Ser14Arg) variant of ACAT1 (P24752)
S14R (p.Ser14Arg) in ACAT1 (P24752) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
S14R (p.Ser14Arg) variant details
- p.Ser14Arg
- gnomAD rs2077151380
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.24
- AlphaMissense 0.12
- MetaLR 0.09
- MetaSVM -1.01
- CADD 14.80
- PolyPhen-2 0.01
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available