A22V (p.Ala22Val) variant of DOCK8 (Q8NF50)
A22V (p.Ala22Val) 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 0.35 / 1. The record also includes population frequency data and structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs506121
- ClinGen CA175834
- ClinVar RCV000150504
- ClinVar RCV000210052
- Benign/Likely benign
- not specified; not provided; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- AlphaMissense 0.30
- MetaLR 0.00
- MetaSVM -0.95
- CADD 22.40
- PolyPhen-2 0.00
- 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:OROQEN population (allele frequency 0.56)
- Structural context available