K15R (p.Lys15Arg) variant of DOCK8 (Q8NF50)
K15R (p.Lys15Arg) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
K15R (p.Lys15Arg) variant details
- p.Lys15Arg
- ExAC rs771201533
- TOPMed rs771201533
- gnomAD rs771201533
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- AlphaMissense 0.14
- MetaLR 0.06
- MetaSVM -1.03
- CADD 28.00
- PolyPhen-2 0.08
- SIFT 0.14
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available