A13A (p.Ala13Ala) variant of DOCK8 (Q8NF50)
A13A (p.Ala13Ala) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs773286453
- gnomAD 9-215015-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- MetaLR 0.03
- MetaSVM -1.05
- CADD 24.10
- PolyPhen-2 0.56
- MutPred 0.27
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available