Q54R (p.Gln54Arg) variant of DOCK8 (Q8NF50)
Q54R (p.Gln54Arg) in DOCK8 (Q8NF50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- gnomAD rs2048827572
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- AlphaMissense 0.10
- MetaLR 0.03
- MetaSVM -1.05
- CADD 11.10
- PolyPhen-2 0.03
- EVE 0.17
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available