V79A (p.Val79Ala) variant of TECRL (Q5HYJ1)
V79A (p.Val79Ala) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Catecholaminergic polymorphic ventricular tachycardia 3; Cardiovascular phenotyp. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
V79A (p.Val79Ala) variant details
- p.Val79Ala
- rs1285659878
- ClinGen CA357150355
- ClinVar RCV003213756
- ClinVar RCV003224647
- Uncertain significance
- Catecholaminergic polymorphic ventricular tachycardia 3; Cardiovascular phenotyp
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.16
- ESM-1b 0.90
- AlphaMissense 0.33
- CADD 24.10
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Catecholaminergic polymorphic ventricular tachycardia 3; Cardiov)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Cited in: Catecholaminergic Polymorphic Ventricular Tachycardia. (PMID 20301466)