A11P (p.Ala11Pro) variant of DOCK8 (Q8NF50)
A11P (p.Ala11Pro) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A11P (p.Ala11Pro) variant details
- p.Ala11Pro
- ExAC rs745702582
- gnomAD rs745702582
- Missense
- Variant Prioritization Score for Impact Estimate 0.562
- AlphaMissense 0.90
- MetaLR 0.06
- MetaSVM -1.09
- CADD 25.10
- PolyPhen-2 0.44
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available