T14N (p.Thr14Asn) variant of CD3D (P04234)
T14N (p.Thr14Asn) in CD3D (P04234) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
T14N (p.Thr14Asn) variant details
- p.Thr14Asn
- ExAC rs200847716
- gnomAD rs200847716
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0978
- REVEL 0.02
- CADD 12.80
- PolyPhen-2 0.07
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available