E14K (p.Glu14Lys) variant of KMT2D (O14686)
E14K (p.Glu14Lys) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
E14K (p.Glu14Lys) variant details
- p.Glu14Lys
- Ensembl rs2120718269
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.33
- MetaLR 0.37
- MetaSVM -0.44
- CADD 24.00
- PolyPhen-2 0.09
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available