L50V (p.Leu50Val) variant of DOCK8 (Q8NF50)
L50V (p.Leu50Val) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L50V (p.Leu50Val) variant details
- p.Leu50Val
- TOPMed rs1045835531
- gnomAD rs1045835531
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- AlphaMissense 0.07
- MetaLR 0.02
- MetaSVM -0.98
- CADD 16.30
- PolyPhen-2 0.00
- SIFT 0.52
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available