R23Q (p.Arg23Gln) variant of TECRL (Q5HYJ1)
R23Q (p.Arg23Gln) in TECRL (Q5HYJ1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R23Q (p.Arg23Gln) variant details
- p.Arg23Gln
- cosmic curated COSV67086
- ExAC rs760208676
- TOPMed rs760208676
- gnomAD rs760208676
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.01
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 3.38
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available