G112R (p.Gly112Arg) variant of TECRL (Q5HYJ1)
G112R (p.Gly112Arg) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
G112R (p.Gly112Arg) variant details
- p.Gly112Arg
- rs772981599
- ClinGen CA2935579
- cosmic curated COSV67087
- ClinVar RCV002320972
- Uncertain significance
- not provided; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available