E61V (p.Glu61Val) variant of TECRL (Q5HYJ1)
E61V (p.Glu61Val) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
E61V (p.Glu61Val) variant details
- p.Glu61Val
- rs200634401
- ClinGen CA2935676
- ClinVar RCV002410505
- ClinVar RCV003317603
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- REVEL 0.48
- ESM-1b 0.36
- AlphaMissense 0.56
- CADD 25.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available