R63H (p.Arg63His) variant of CD3D (P04234)
R63H (p.Arg63His) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 19. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R63H (p.Arg63His) variant details
- p.Arg63His
- rs374700153
- ClinGen CA6301978
- ClinVar RCV003189728
- ClinVar RCV006561186
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 19
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.21
- CADD 20.60
- PolyPhen-2 0.55
- SIFT 0.57
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 19)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)