I24V (p.Ile24Val) variant of DOCK8 (Q8NF50)
I24V (p.Ile24Val) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
I24V (p.Ile24Val) variant details
- p.Ile24Val
- gnomAD 9-271643-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- AlphaMissense 0.15
- MetaLR 0.01
- MetaSVM -1.03
- CADD 14.60
- PolyPhen-2 0.45
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available