V38L (p.Val38Leu) variant of KMT2D (O14686)
V38L (p.Val38Leu) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
V38L (p.Val38Leu) variant details
- p.Val38Leu
- gnomAD rs1441543137
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.27
- MetaLR 0.18
- MetaSVM -0.92
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available