I25M (p.Ile25Met) variant of TECRL (Q5HYJ1)
I25M (p.Ile25Met) 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 0.07 / 1. The record also includes population frequency data and structural context.
I25M (p.Ile25Met) variant details
- p.Ile25Met
- rs762325165
- ClinGen CA357149413
- ClinVar RCV002394216
- ExAC rs762325165
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0669
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.24
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.4e-05)
- Structural context available