H71N (p.His71Asn) variant of DOCK8 (Q8NF50)
H71N (p.His71Asn) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
H71N (p.His71Asn) variant details
- p.His71Asn
- TOPMed rs1444485949
- gnomAD rs1444485949
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.11
- AlphaMissense 0.09
- MetaLR 0.16
- MetaSVM -1.01
- CADD 21.50
- PolyPhen-2 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available