I16I (p.Ile16Ile) variant of DOCK8 (Q8NF50)
I16I (p.Ile16Ile) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
I16I (p.Ile16Ile) variant details
- p.Ile16Ile
- rs1316350320
- gnomAD 9-215024-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.503
- MetaLR 0.06
- MetaSVM -1.00
- CADD 28.80
- PolyPhen-2 1.00
- MutPred 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available