M29V (p.Met29Val) variant of ASXL1 (Polycomb group protein ASXL1)
M29V (p.Met29Val) 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 0.43 / 1. The record also includes population frequency data and structural context.
M29V (p.Met29Val) variant details
- p.Met29Val
- rs769223128
- ClinGen CA408577684
- ClinVar RCV003670358
- ExAC rs769223128
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.70
- MetaLR 0.33
- MetaSVM -0.45
- PolyPhen-2 0.97
- SIFT 0.00
- MutPred 0.30
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available