Y24C (p.Tyr24Cys) variant of ASXL1 (Polycomb group protein ASXL1)
Y24C (p.Tyr24Cys) in ASXL1 (Polycomb group protein ASXL1) 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 0.35 / 1. The record also includes structural context.
Y24C (p.Tyr24Cys) variant details
- p.Tyr24Cys
- rs2122810196
- ClinGen CA408577570
- ClinVar RCV003570102
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- AlphaMissense 0.32
- MetaLR 0.09
- MetaSVM -0.92
- PolyPhen-2 0.99
- SIFT 0.05
- MutPred 0.29
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available