R10L (p.Arg10Leu) variant of DOCK8 (Q8NF50)
R10L (p.Arg10Leu) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- gnomAD rs1233947697
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- MetaLR 0.03
- MetaSVM -1.08
- CADD 29.00
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.37
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available