T37K (p.Thr37Lys) variant of LCAT (P04180)
T37K (p.Thr37Lys) in LCAT (P04180) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in LCATD. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
T37K (p.Thr37Lys) variant details
- p.Thr37Lys
- TOPMed rs971887742
- gnomAD rs971887742
- Pathogenic
- in LCATD
- Missense
- Variant Prioritization Score for Impact Estimate 0.621
- REVEL 0.54
- CADD 21.40
- PolyPhen-2 0.27
- SIFT 0.38
- EBI: Pathogenic (in LCATD)
- UniProt: Pathogenic (in LCATD)
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available