K1207E (p.Lys1207Glu) variant of KMT2C (Q8NEZ4)
K1207E (p.Lys1207Glu) in KMT2C (Q8NEZ4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Kleefstra syndrome 2. The record also includes variant effect predictions.
K1207E (p.Lys1207Glu) variant details
- p.Lys1207Glu
- rs2129145634
- ClinGen CA370108897
- ClinVar RCV002226822
- Ensembl rs2129145634
- Likely pathogenic
- Kleefstra syndrome 2
- Missense
- AlphaMissense 0.99
- MetaLR 0.59
- MetaSVM 0.04
- PolyPhen-2 0.99
- SIFT 0.07
- EVE 0.67
- ClinVar: Likely pathogenic (Kleefstra syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic