L51P (p.Leu51Pro) variant of CD3D (P04234)
L51P (p.Leu51Pro) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 19; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
L51P (p.Leu51Pro) variant details
- p.Leu51Pro
- rs200037447
- ClinGen CA6301982
- ClinVar RCV001316720
- ClinVar RCV004968022
- Uncertain significance
- Immunodeficiency 19; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.29
- CADD 0.05
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (Immunodeficiency 19; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)