M129I (p.Met129Ile) variant of KRT12 (Keratin, type I cytoskeletal 12)
M129I (p.Met129Ile) in KRT12 (Keratin, type I cytoskeletal 12) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact in the context of in MECD1. The record also includes structural context.
M129I (p.Met129Ile) variant details
- p.Met129Ile
- NCI-TCGA Cosmic COSV5243
- TOPMed rs1907044910
- Variant assessed as somatic; moderate impact.
- in MECD1
- Missense
- UniProt: Variant assessed as somatic; moderate impact. (in MECD1)
- Structural context available