H6P (p.His6Pro) variant of CD3E (P07766)
H6P (p.His6Pro) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
H6P (p.His6Pro) variant details
- p.His6Pro
- rs1009249314
- ClinGen CA229495803
- ClinVar RCV001043238
- TOPMed rs1009249314
- Uncertain significance
- Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- AlphaMissense 0.07
- MetaLR 0.06
- MetaSVM -1.05
- PolyPhen-2 0.02
- SIFT 0.21
- MutPred 0.40
- ClinVar: Uncertain significance (Immunodeficiency 18)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available