A7S (p.Ala7Ser) variant of DOCK8 (Q8NF50)
A7S (p.Ala7Ser) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A7S (p.Ala7Ser) variant details
- p.Ala7Ser
- gnomAD 9-214995-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- AlphaMissense 0.09
- MetaLR 0.04
- MetaSVM -1.02
- CADD 42.00
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available
- Literature evidence available