R23W (p.Arg23Trp) variant of TECRL (Q5HYJ1)
R23W (p.Arg23Trp) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
R23W (p.Arg23Trp) variant details
- p.Arg23Trp
- cosmic curated COSV67089
- 1000Genomes rs371049748
- ExAC rs371049748
- TOPMed rs371049748
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.20
- PolyPhen-2 0.45
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0054)
- Structural context available