S41G (p.Ser41Gly) variant of DOCK8 (Q8NF50)
S41G (p.Ser41Gly) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
S41G (p.Ser41Gly) variant details
- p.Ser41Gly
- TOPMed rs1326519555
- gnomAD rs1326519555
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.13
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available