R19K (p.Arg19Lys) variant of ABCG5 (Q9H222)
R19K (p.Arg19Lys) in ABCG5 (Q9H222) 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 0.44 / 1. The record also includes structural context.
R19K (p.Arg19Lys) variant details
- p.Arg19Lys
- rs745875586
- ClinGen CA346662014
- cosmic curated COSV53210
- ClinVar RCV004418200
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- AlphaMissense 0.08
- MetaLR 0.45
- MetaSVM -0.59
- PolyPhen-2 0.00
- SIFT 0.55
- MutPred 0.30
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available