A88T (p.Ala88Thr) variant of ABL2 (Tyrosine-protein kinase ABL2)
A88T (p.Ala88Thr) in ABL2 (Tyrosine-protein kinase ABL2) is a missense change. Clinical records from ClinVar, EBI, 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 0.33 / 1. The record also includes population frequency data.
A88T (p.Ala88Thr) variant details
- p.Ala88Thr
- NCI-TCGA Cosmic COSV1007
- NCI-TCGA Cosmic COSV6101
- cosmic curated COSV61012
- Ensembl rs1656314171
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.10
- CADD 23.40
- PolyPhen-2 0.37
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available