T53A (p.Thr53Ala) variant of TSLP (Thymic stromal lymphopoietin)
T53A (p.Thr53Ala) 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 0.04 / 1. The record also includes population frequency data and structural context.
T53A (p.Thr53Ala) variant details
- p.Thr53Ala
- ExAC rs778884101
- TOPMed rs778884101
- gnomAD rs778884101
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0388
- REVEL 0.02
- CADD 0.01
- PolyPhen-2 0.04
- SIFT 0.53
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available