R103Q (p.Arg103Gln) variant of TECRL (Q5HYJ1)
R103Q (p.Arg103Gln) 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 0.31 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs1331118766
- ClinGen CA357145855
- ClinVar RCV004469460
- TOPMed rs1331118766
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.19
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 22.50
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available