A7V (p.Ala7Val) variant of KMT2D (O14686)
A7V (p.Ala7Val) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign 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.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs2120718503
- ClinGen CA384691391
- ClinVar RCV002741059
- Ensembl rs2120718503
- Likely benign
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- AlphaMissense 0.15
- MetaLR 0.26
- MetaSVM -0.73
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.09
- ClinVar: Likely benign (Kabuki syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)