P55L (p.Pro55Leu) variant of KMT2D (O14686)
P55L (p.Pro55Leu) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P55L (p.Pro55Leu) variant details
- p.Pro55Leu
- ExAC rs767274089
- TOPMed rs767274089
- gnomAD rs767274089
- Missense
- Variant Prioritization Score for Impact Estimate 0.333
- REVEL 0.31
- MetaLR 0.24
- MetaSVM -0.74
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available