D63N (p.Asp63Asn) variant of DOCK8 (Q8NF50)
D63N (p.Asp63Asn) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; not provided; Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D63N (p.Asp63Asn) variant details
- p.Asp63Asn
- rs3209441
- ClinGen CA175837
- ClinVar RCV000150505
- ClinVar RCV000276708
- Benign/Likely benign
- not specified; not provided; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- AlphaMissense 0.26
- MetaLR 0.00
- MetaSVM -1.23
- CADD 28.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (not specified; not provided; Combined immunodeficiency due to DO)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.5)
- Structural context available