P93S (p.Pro93Ser) variant of LCAT (P04180)
P93S (p.Pro93Ser) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P93S (p.Pro93Ser) variant details
- p.Pro93Ser
- rs1440905440
- gnomAD 16-67939928-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 8.75
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available