S20F (p.Ser20Phe) variant of DOCK8 (Q8NF50)
S20F (p.Ser20Phe) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- rs1363190971
- ClinGen CA372752188
- ClinVar RCV005058937
- TOPMed rs1363190971
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.595
- AlphaMissense 0.56
- MetaLR 0.07
- MetaSVM -1.14
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.21
- ClinVar: Uncertain significance
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.4e-05)
- Structural context available