Q19K (p.Gln19Lys) variant of TECRL (Q5HYJ1)
Q19K (p.Gln19Lys) 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 0.15 / 1. The record also includes population frequency data and structural context.
Q19K (p.Gln19Lys) variant details
- p.Gln19Lys
- rs778546497
- ExAC rs778546497
- gnomAD rs778546497
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 6.41
- PolyPhen-2 0.00
- SIFT 0.33
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available