D32H (p.Asp32His) variant of KMT2D (O14686)
D32H (p.Asp32His) in KMT2D (O14686) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D32H (p.Asp32His) variant details
- p.Asp32His
- rs2120716122
- ClinGen CA384690706
- ClinVar RCV002276289
- Ensembl rs2120716122
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.34
- MetaLR 0.27
- MetaSVM -0.72
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available