Q90K (p.Gln90Lys) variant of TECRL (Q5HYJ1)
Q90K (p.Gln90Lys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q90K (p.Gln90Lys) variant details
- p.Gln90Lys
- rs2109679944
- ClinGen CA357150287
- ClinVar RCV001587026
- Ensembl rs2109679944
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 16.30
- PolyPhen-2 0.03
- SIFT 0.88
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available