K39R (p.Lys39Arg) variant of LCAT (P04180)
K39R (p.Lys39Arg) in LCAT (P04180) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- rs2058312868
- ClinGen CA396382632
- ClinVar RCV002329867
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- AlphaMissense 0.26
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available