L7Q (p.Leu7Gln) variant of TSLP (Thymic stromal lymphopoietin)
L7Q (p.Leu7Gln) in TSLP (Thymic stromal lymphopoietin) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L7Q (p.Leu7Gln) variant details
- p.Leu7Gln
- TOPMed rs1752346246
- gnomAD rs1752346246
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.28
- CADD 15.20
- PolyPhen-2 0.99
- SIFT 0.08
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available