S43R (p.Ser43Arg) variant of LCAT (P04180)
S43R (p.Ser43Arg) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
S43R (p.Ser43Arg) variant details
- p.Ser43Arg
- TOPMed rs1489598307
- gnomAD rs1489598307
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.26
- CADD 22.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available