S123R (p.Ser123Arg) variant of TECRL (Q5HYJ1)
S123R (p.Ser123Arg) 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 0.17 / 1. The record also includes population frequency data and structural context.
S123R (p.Ser123Arg) variant details
- p.Ser123Arg
- ExAC rs746216781
- TOPMed rs746216781
- gnomAD rs746216781
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.30
- CADD 8.01
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available