H37Y (p.His37Tyr) variant of KMT2D (O14686)
H37Y (p.His37Tyr) in KMT2D (O14686) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H37Y (p.His37Tyr) variant details
- p.His37Tyr
- rs1243381790
- ClinGen CA384690469
- ClinVar RCV000601562
- ClinVar RCV002528802
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.31
- MetaLR 0.20
- MetaSVM -0.87
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.24
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Cited in: Kabuki Syndrome. (PMID 21882399)