S74I (p.Ser74Ile) variant of DOCK8 (Q8NF50)
S74I (p.Ser74Ile) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S74I (p.Ser74Ile) variant details
- p.Ser74Ile
- rs563918671
- ClinGen CA372756113
- ClinVar RCV004621754
- ClinVar RCV006473598
- Uncertain significance
- Inborn genetic diseases; Combined immunodeficiency due to DOCK8 deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- AlphaMissense 0.07
- MetaLR 0.05
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.37
- EVE 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases; Combined immunodeficiency due to DOCK8)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)