H37P (p.His37Pro) variant of KMT2D (O14686)
H37P (p.His37Pro) 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 0.35 / 1. The record also includes published literature and structural context.
H37P (p.His37Pro) variant details
- p.His37Pro
- rs1409291268
- ClinGen CA384690460
- ClinVar RCV003590382
- Ensembl rs1409291268
- Uncertain significance
- Kabuki syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- AlphaMissense 0.07
- MetaLR 0.19
- MetaSVM -0.90
- PolyPhen-2 0.00
- SIFT 0.02
- MutPred 0.09
- ClinVar: Uncertain significance (Kabuki syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)