R76C (p.Arg76Cys) variant of LCAT (P04180)
R76C (p.Arg76Cys) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
R76C (p.Arg76Cys) variant details
- p.Arg76Cys
- TOPMed rs1055719644
- gnomAD rs1055719644
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- REVEL 0.63
- CADD 27.30
- PolyPhen-2 0.72
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available