T88K (p.Thr88Lys) variant of ABCC2 (Q92887)
T88K (p.Thr88Lys) in ABCC2 (Q92887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes structural context.
T88K (p.Thr88Lys) variant details
- p.Thr88Lys
- rs1564669915
- ClinGen CA378101818
- ClinVar RCV000729561
- Ensembl rs1564669915
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.16
- MetaLR 0.07
- MetaSVM -1.03
- PolyPhen-2 0.21
- SIFT 0.34
- MutPred 0.46
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available