S6S (p.Ser6Ser) variant of DOCK8 (Q8NF50)
S6S (p.Ser6Ser) in DOCK8 (Q8NF50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S6S (p.Ser6Ser) variant details
- p.Ser6Ser
- rs1478022070
- gnomAD 9-214994-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.439
- MetaLR 0.03
- MetaSVM -1.05
- CADD 22.50
- PolyPhen-2 0.86
- MutPred 0.30
- Most common in the Latino/Admixed American population (allele frequency 4.6e-05)
- Structural context available
- Literature evidence available