R10S (p.Arg10Ser) variant of DOCK8 (Q8NF50)
R10S (p.Arg10Ser) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R10S (p.Arg10Ser) variant details
- p.Arg10Ser
- gnomAD 9-215004-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- AlphaMissense 0.99
- MetaLR 0.04
- MetaSVM -1.06
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available