M1L (p.Met1Leu) variant of ASXL1 (Polycomb group protein ASXL1)
M1L (p.Met1Leu) 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 0.27 / 1. The record also includes population frequency data and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs2122754733
- ClinGen CA408575118
- ClinVar RCV001582990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- MetaLR 0.04
- MetaSVM -1.07
- PolyPhen-2 0.02
- SIFT 0.00
- MutPred 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available