H5Q (p.His5Gln) variant of TECRL (Q5HYJ1)
H5Q (p.His5Gln) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
H5Q (p.His5Gln) variant details
- p.His5Gln
- ExAC rs773646608
- TOPMed rs773646608
- gnomAD rs773646608
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 6.60
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available