R25S (p.Arg25Ser) variant of DOCK8 (Q8NF50)
R25S (p.Arg25Ser) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- gnomAD 9-271648-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- AlphaMissense 0.99
- MetaLR 0.09
- MetaSVM -1.00
- CADD 23.30
- PolyPhen-2 0.45
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available