H34R (p.His34Arg) variant of TECRL (Q5HYJ1)
H34R (p.His34Arg) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
H34R (p.His34Arg) variant details
- p.His34Arg
- rs1464343344
- ClinGen CA357149281
- ClinVar RCV002364344
- TOPMed rs1464343344
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.10
- PolyPhen-2 0.03
- SIFT 0.18
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available