Q54H (p.Gln54His) variant of DOCK8 (Q8NF50)
Q54H (p.Gln54His) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
Q54H (p.Gln54His) variant details
- p.Gln54His
- 1000Genomes rs190478517
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.12
- MetaLR 0.03
- MetaSVM -1.05
- CADD 15.20
- PolyPhen-2 0.36
- SIFT 0.17
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available