L44F (p.Leu44Phe) variant of KMT2D (O14686)
L44F (p.Leu44Phe) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
L44F (p.Leu44Phe) variant details
- p.Leu44Phe
- gnomAD rs1229092998
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.36
- MetaLR 0.22
- MetaSVM -0.81
- CADD 18.90
- PolyPhen-2 0.04
- SIFT 0.06
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available