R1255W (p.Arg1255Trp) variant of KDM6A (Lysine-specific demethylase 6A)
R1255W (p.Arg1255Trp) in KDM6A (Lysine-specific demethylase 6A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Kabuki syndrome 2; Kabuki syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R1255W (p.Arg1255Trp) variant details
- p.Arg1255Trp
- rs1450363794
- ClinGen CA412808076
- NCI-TCGA Cosmic COSV6503
- cosmic curated COSV65037
- Pathogenic
- Kabuki syndrome 2; Kabuki syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- AlphaMissense 0.97
- MetaLR 0.46
- MetaSVM 0.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Kabuki syndrome 2; Kabuki syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)