R10H (p.Arg10His) variant of DOCK8 (Q8NF50)
R10H (p.Arg10His) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R10H (p.Arg10His) variant details
- p.Arg10His
- gnomAD 9-215005-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.541
- MetaLR 0.04
- MetaSVM -1.07
- CADD 29.60
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.34
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available