D71H (p.Asp71His) variant of CD3E (P07766)
D71H (p.Asp71His) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Immunodeficiency 18. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D71H (p.Asp71His) variant details
- p.Asp71His
- rs148647954
- ClinGen CA6301641
- ClinVar RCV000615505
- ClinVar RCV001706451
- Conflicting interpretations
- not provided; Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.0787
- REVEL 0.01
- MetaLR 0.04
- MetaSVM -1.02
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (not provided; Immunodeficiency 18)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available