P5S (p.Pro5Ser) variant of DOCK8 (Q8NF50)
P5S (p.Pro5Ser) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- gnomAD 9-214989-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- AlphaMissense 0.12
- MetaLR 0.02
- MetaSVM -1.04
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Literature evidence available