N17K (p.Asn17Lys) variant of DOCK8 (Q8NF50)
N17K (p.Asn17Lys) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
N17K (p.Asn17Lys) variant details
- p.Asn17Lys
- gnomAD 9-215027-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.506
- AlphaMissense 0.88
- MetaLR 0.06
- MetaSVM -1.00
- CADD 26.40
- PolyPhen-2 0.00
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available