R109Q (p.Arg109Gln) variant of LCAT (P04180)
R109Q (p.Arg109Gln) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R109Q (p.Arg109Gln) variant details
- p.Arg109Gln
- ExAC rs764199690
- TOPMed rs764199690
- gnomAD rs764199690
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.45
- CADD 22.20
- PolyPhen-2 0.24
- SIFT 0.08
- Most common in the East Asian population (allele frequency 0.00058)
- Structural context available