Q90P (p.Gln90Pro) variant of TECRL (Q5HYJ1)
Q90P (p.Gln90Pro) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q90P (p.Gln90Pro) variant details
- p.Gln90Pro
- ExAC rs779284319
- gnomAD rs779284319
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.11
- ESM-1b 1.00
- AlphaMissense 0.49
- CADD 22.30
- PolyPhen-2 0.28
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available