I24R (p.Ile24Arg) variant of DOCK8 (Q8NF50)
I24R (p.Ile24Arg) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I24R (p.Ile24Arg) variant details
- p.Ile24Arg
- gnomAD 9-271644-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- AlphaMissense 0.87
- MetaLR 0.05
- MetaSVM -1.13
- CADD 23.90
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available