T821I (p.Thr821Ile) variant of MECOM (Q03112)
T821I (p.Thr821Ile) in MECOM (Q03112) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of MECOM-associated syndrome; Congenital heart disease. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data.
T821I (p.Thr821Ile) variant details
- p.Thr821Ile
- ExAC rs764772711
- gnomAD rs764772711
- Likely pathogenic
- MECOM-associated syndrome; Congenital heart disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 0.00
- ClinVar: Likely pathogenic (MECOM-associated syndrome; Congenital heart disease)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)