S45C (p.Ser45Cys) variant of DOCK8 (Q8NF50)
S45C (p.Ser45Cys) 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.
S45C (p.Ser45Cys) variant details
- p.Ser45Cys
- ExAC rs772334083
- TOPMed rs772334083
- gnomAD rs772334083
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- AlphaMissense 0.08
- MetaLR 0.08
- MetaSVM -1.17
- CADD 23.40
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available