M13I (p.Met13Ile) variant of ABCG5 (Q9H222)
M13I (p.Met13Ile) in ABCG5 (Q9H222) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data, published literature, and structural context.
M13I (p.Met13Ile) variant details
- p.Met13Ile
- rs572875739
- NCI-TCGA Cosmic COSV5321
- NCI-TCGA Cosmic COSV9957
- cosmic curated COSV99575
- Uncertain significance
- not specified; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0591
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.41
- ClinVar: Uncertain significance (not specified; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available
- Cited in: Sitosterolemia. (PMID 23556150)