P5T (p.Pro5Thr) variant of DOCK8 (Q8NF50)
P5T (p.Pro5Thr) 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.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- gnomAD 9-214989-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- AlphaMissense 0.16
- MetaLR 0.03
- MetaSVM -1.09
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available