S43G (p.Ser43Gly) variant of DOCK8 (Q8NF50)
S43G (p.Ser43Gly) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- rs2537456155
- ClinGen CA372752403
- ClinVar RCV005096118
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.10
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.08
- ClinVar: Uncertain significance
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available