M11L (p.Met11Leu) variant of BACH2 (Q9BYV9)
M11L (p.Met11Leu) in BACH2 (Q9BYV9) 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 0.31 / 1.
M11L (p.Met11Leu) variant details
- p.Met11Leu
- rs1432967879
- cosmic curated COSV57610
- ClinGen CA365069662
- ClinVar RCV001894380
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- AlphaMissense 0.17
- MetaLR 0.03
- MetaSVM -1.03
- PolyPhen-2 0.36
- SIFT 0.03
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance