A62T (p.Ala62Thr) variant of LCAT (P04180)
A62T (p.Ala62Thr) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A62T (p.Ala62Thr) variant details
- p.Ala62Thr
- rs1012071419
- gnomAD 16-67940039-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 7.57
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available