N74S (p.Asn74Ser) variant of CD3D (P04234)
N74S (p.Asn74Ser) in CD3D (P04234) is a missense change. Clinical records from ClinVar 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 0.03 / 1. The record also includes population frequency data and structural context.
N74S (p.Asn74Ser) variant details
- p.Asn74Ser
- TOPMed rs960253005
- Uncertain significance
- Immunodeficiency 19; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.0303
- REVEL 0.01
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.56
- ClinVar: Uncertain significance (Immunodeficiency 19; Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available