A22P (p.Ala22Pro) variant of DOCK8 (Q8NF50)
A22P (p.Ala22Pro) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A22P (p.Ala22Pro) variant details
- p.Ala22Pro
- gnomAD 9-271637-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- AlphaMissense 0.73
- MetaLR 0.06
- MetaSVM -1.11
- CADD 23.20
- 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