E24D (p.Glu24Asp) variant of KMT2D (O14686)
E24D (p.Glu24Asp) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD rs1938323460
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.37
- MetaLR 0.23
- MetaSVM -0.83
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available