I158T (p.Ile158Thr) variant of MYL2 (P10916)
I158T (p.Ile158Thr) in MYL2 (P10916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes published literature and structural context.
I158T (p.Ile158Thr) variant details
- p.Ile158Thr
- rs2136767620
- ClinGen CA386696737
- ClinVar RCV001568358
- Ensembl rs2136767620
- Pathogenic
- Congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.59
- MetaLR 0.31
- MetaSVM -0.41
- PolyPhen-2 0.65
- SIFT 0.04
- MutPred 0.55
- ClinVar: Pathogenic (Congenital heart disease)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of… (PMID 19038677)
- Cited in: 2018 AHA/ACC Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of… (PMID 30121239)