D12N (p.Asp12Asn) variant of KMT2D (O14686)
D12N (p.Asp12Asn) 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 0.58 / 1. The record also includes published literature and structural context.
D12N (p.Asp12Asn) variant details
- p.Asp12Asn
- rs2120718350
- ClinGen CA384691281
- ClinVar RCV003754016
- Ensembl rs2120718350
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.581
- AlphaMissense 0.40
- MetaLR 0.62
- MetaSVM 0.20
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.21
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)