E11D (p.Glu11Asp) variant of TECRL (Q5HYJ1)
E11D (p.Glu11Asp) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Cardiovascular phenotype; TECRL-related disorder; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
E11D (p.Glu11Asp) variant details
- p.Glu11Asp
- rs148442292
- ClinGen CA2935713
- ClinVar RCV001547333
- ClinVar RCV002458518
- Conflicting interpretations
- Cardiovascular phenotype; TECRL-related disorder; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; TECRL-related disorder; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BASQUE population (allele frequency 0.023)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)