R10C (p.Arg10Cys) variant of DOCK8 (Q8NF50)
R10C (p.Arg10Cys) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- TOPMed rs1448715670
- gnomAD rs1448715670
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.97
- MetaLR 0.05
- MetaSVM -1.05
- CADD 24.50
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available