A13V (p.Ala13Val) variant of DOCK8 (Q8NF50)
A13V (p.Ala13Val) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
A13V (p.Ala13Val) variant details
- p.Ala13Val
- ExAC rs768525450
- TOPMed rs768525450
- gnomAD rs768525450
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.30
- MetaLR 0.02
- MetaSVM -1.03
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.16
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available