V51M (p.Val51Met) variant of ABCG5 (Q9H222)
V51M (p.Val51Met) 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; Sitosterolemia 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
V51M (p.Val51Met) variant details
- p.Val51Met
- rs551349294
- ClinGen CA1636759
- cosmic curated COSV53210
- ClinVar RCV001143475
- Uncertain significance
- Cardiovascular phenotype; Sitosterolemia 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 20.30
- PolyPhen-2 0.83
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype; Sitosterolemia 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)