A2T (p.Ala2Thr) variant of SYK (Tyrosine-protein kinase SYK)
A2T (p.Ala2Thr) in SYK (Tyrosine-protein kinase SYK) 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 0.27 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- Ensembl rs201301123
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.11
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available