T58A (p.Thr58Ala) variant of TECRL (Q5HYJ1)
T58A (p.Thr58Ala) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
T58A (p.Thr58Ala) variant details
- p.Thr58Ala
- rs189087821
- ClinGen CA2935681
- cosmic curated COSV10116
- ClinVar RCV001337070
- Conflicting interpretations
- not specified; Cardiovascular phenotype; Catecholaminergic polymorphic ventricul
- Missense
- Variant Prioritization Score for Impact Estimate 0.068
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Conflicting classifications of pathogenicity (not specified; Cardiovascular phenotype; Catecholaminergic polym)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)