V41F (p.Val41Phe) variant of KMT2D (O14686)
V41F (p.Val41Phe) in KMT2D (O14686) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V41F (p.Val41Phe) variant details
- p.Val41Phe
- TOPMed rs1938318494
- gnomAD rs1938318494
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.39
- MetaLR 0.28
- MetaSVM -0.62
- CADD 19.80
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available