S41I (p.Ser41Ile) variant of DOCK8 (Q8NF50)
S41I (p.Ser41Ile) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
S41I (p.Ser41Ile) variant details
- p.Ser41Ile
- TOPMed rs1264607684
- gnomAD rs1264607684
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- AlphaMissense 0.16
- MetaLR 0.05
- MetaSVM -1.15
- CADD 23.60
- PolyPhen-2 0.03
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available