P5P (p.Pro5Pro) variant of DOCK8 (Q8NF50)
P5P (p.Pro5Pro) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
P5P (p.Pro5Pro) variant details
- p.Pro5Pro
- rs148276394
- gnomAD 9-214991-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.233
- MetaLR 0.05
- MetaSVM -0.94
- CADD 20.90
- PolyPhen-2 1.00
- Most common in the 1KG:GBR population (allele frequency 0.0057)
- Structural context available
- Literature evidence available