S6R (p.Ser6Arg) variant of DOCK8 (Q8NF50)
S6R (p.Ser6Arg) in DOCK8 (Q8NF50) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- gnomAD rs1478022070
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- MetaLR 0.02
- MetaSVM -0.97
- CADD 23.30
- PolyPhen-2 0.95
- SIFT 0.01
- MutPred 0.29
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available