I16T (p.Ile16Thr) variant of DOCK8 (Q8NF50)
I16T (p.Ile16Thr) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I16T (p.Ile16Thr) variant details
- p.Ile16Thr
- gnomAD 9-215023-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- MetaLR 0.02
- MetaSVM -1.03
- CADD 25.50
- PolyPhen-2 0.70
- SIFT 0.01
- MutPred 0.21
- Population evidence available
- Structural context available
- Literature evidence available