S43T (p.Ser43Thr) variant of LCAT (P04180)
S43T (p.Ser43Thr) in LCAT (P04180) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
S43T (p.Ser43Thr) variant details
- p.Ser43Thr
- 1000Genomes rs143128684
- ExAC rs143128684
- gnomAD rs143128684
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.21
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available