Q51R (p.Gln51Arg) variant of DOCK8 (Q8NF50)
Q51R (p.Gln51Arg) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
Q51R (p.Gln51Arg) variant details
- p.Gln51Arg
- gnomAD rs1158781902
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.11
- MetaLR 0.04
- MetaSVM -1.08
- CADD 21.10
- PolyPhen-2 0.08
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available