P21H (p.Pro21His) variant of CD3D (P04234)
P21H (p.Pro21His) in CD3D (P04234) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
P21H (p.Pro21His) variant details
- p.Pro21His
- rs879255345
- ClinGen CA10586005
- ClinVar RCV000239301
- TOPMed rs879255345
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.115
- REVEL 0.09
- CADD 11.10
- PolyPhen-2 0.87
- SIFT 0.15
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available