A13P (p.Ala13Pro) variant of DOCK8 (Q8NF50)
A13P (p.Ala13Pro) in DOCK8 (Q8NF50) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 3, autosomal recessive; Inborn genetic di. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A13P (p.Ala13Pro) variant details
- p.Ala13Pro
- rs749272308
- ClinGen CA4956912
- ClinVar RCV004980398
- ClinVar RCV005416526
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 3, autosomal recessive; Inborn genetic di
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- AlphaMissense 0.94
- MetaLR 0.05
- MetaSVM -1.12
- CADD 25.10
- PolyPhen-2 0.59
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 3, autosomal recessive; I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-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)