N17T (p.Asn17Thr) variant of DOCK8 (Q8NF50)
N17T (p.Asn17Thr) in DOCK8 (Q8NF50) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
N17T (p.Asn17Thr) variant details
- p.Asn17Thr
- gnomAD 9-215023-TC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.565
- CADD 32.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available
- Literature evidence available