D68G (p.Asp68Gly) variant of LCAT (P04180)
D68G (p.Asp68Gly) 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 0.51 / 1. The record also includes structural context.
D68G (p.Asp68Gly) variant details
- p.Asp68Gly
- rs2058302402
- ClinGen CA396381983
- ClinVar RCV003342002
- TOPMed rs2058302402
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.507
- AlphaMissense 0.11
- MetaLR 0.77
- MetaSVM 0.01
- PolyPhen-2 0.00
- SIFT 0.11
- EVE 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available