K26N (p.Lys26Asn) variant of DOCK8 (Q8NF50)
K26N (p.Lys26Asn) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
K26N (p.Lys26Asn) variant details
- p.Lys26Asn
- ESP rs369163495
- TOPMed rs369163495
- gnomAD rs369163495
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- AlphaMissense 0.83
- MetaLR 0.04
- MetaSVM -1.01
- CADD 22.10
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available