S18Y (p.Ser18Tyr) variant of TECRL (Q5HYJ1)
S18Y (p.Ser18Tyr) 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 0.12 / 1. The record also includes population frequency data and structural context.
S18Y (p.Ser18Tyr) variant details
- p.Ser18Tyr
- TOPMed rs1416526245
- gnomAD rs1416526245
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 8.17
- PolyPhen-2 0.02
- SIFT 0.15
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available