G4445D (p.Gly4445Asp) variant of KMT2C (Q8NEZ4)
G4445D (p.Gly4445Asp) 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.
G4445D (p.Gly4445Asp) variant details
- p.Gly4445Asp
- rs2091357682
- ClinGen CA370091499
- cosmic curated COSV51471
- ClinVar RCV003323837
- Likely pathogenic
- Kleefstra syndrome 2
- Missense
- AlphaMissense 1.00
- MetaLR 0.53
- MetaSVM 0.13
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.73
- ClinVar: Likely pathogenic (Kleefstra syndrome 2)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic