T54S (p.Thr54Ser) variant of KMT2D (O14686)
T54S (p.Thr54Ser) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Kabuki syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
T54S (p.Thr54Ser) variant details
- p.Thr54Ser
- rs1187636945
- ClinGen CA384689805
- ClinVar RCV003057651
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.07
- MetaLR 0.28
- MetaSVM -0.71
- PolyPhen-2 0.00
- SIFT 0.12
- MutPred 0.10
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)