C55R (p.Cys55Arg) variant of LCAT (P04180)
C55R (p.Cys55Arg) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
C55R (p.Cys55Arg) variant details
- p.Cys55Arg
- rs2058283997
- gnomAD 16-67940057-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- CADD 7.19
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available