A2A (p.Ala2Ala) variant of DOCK8 (Q8NF50)
A2A (p.Ala2Ala) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
A2A (p.Ala2Ala) variant details
- p.Ala2Ala
- rs759932577
- gnomAD 9-214982-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.396
- MetaLR 0.03
- MetaSVM -1.07
- CADD 25.00
- PolyPhen-2 0.75
- MutPred 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 2e-05)
- Structural context available
- Literature evidence available