V59L (p.Val59Leu) variant of DOCK8 (Q8NF50)
V59L (p.Val59Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- TOPMed rs955740785
- gnomAD rs955740785
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.37
- MetaLR 0.09
- MetaSVM -1.08
- CADD 22.70
- PolyPhen-2 0.73
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available