M240I (p.Met240Ile) variant of FAT1 (Protocadherin Fat 1)
M240I (p.Met240Ile) in FAT1 (Protocadherin Fat 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Multiple myeloma. The record also includes variant effect predictions.
M240I (p.Met240Ile) variant details
- p.Met240Ile
- rs1579491104
- Ensembl rs1579491104
- ClinGen CA358990663
- ClinVar RCV000984107
- Likely pathogenic
- Multiple myeloma
- Missense
- AlphaMissense 0.38
- MetaLR 0.06
- MetaSVM -1.04
- PolyPhen-2 0.13
- SIFT 0.42
- MutPred 0.42
- ClinVar: Likely pathogenic (Multiple myeloma)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic