A2S (p.Ala2Ser) variant of DOCK8 (Q8NF50)
A2S (p.Ala2Ser) 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.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 9-214980-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- AlphaMissense 0.25
- MetaLR 0.03
- MetaSVM -1.03
- CADD 23.80
- PolyPhen-2 0.15
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available