F12Y (p.Phe12Tyr) variant of DOCK8 (Q8NF50)
F12Y (p.Phe12Tyr) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F12Y (p.Phe12Tyr) variant details
- p.Phe12Tyr
- gnomAD 9-215011-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- MetaLR 0.03
- MetaSVM -1.09
- CADD 27.90
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available