Y56C (p.Tyr56Cys) variant of DOCK8 (Q8NF50)
Y56C (p.Tyr56Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Y56C (p.Tyr56Cys) variant details
- p.Tyr56Cys
- rs373301364
- ClinGen CA4957126
- ClinVar RCV004972967
- ClinVar RCV005092404
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.447
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -1.09
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.19
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 5e-05)
- 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)