A17T (p.Ala17Thr) variant of KMT2D (O14686)
A17T (p.Ala17Thr) 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 0.55 / 1. The record also includes published literature and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- rs1323918085
- ClinGen CA384691189
- ClinVar RCV003752959
- TOPMed rs1323918085
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- AlphaMissense 0.24
- MetaLR 0.61
- MetaSVM 0.15
- PolyPhen-2 1.00
- SIFT 0.00
- 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)