P35S (p.Pro35Ser) variant of CD3E (P07766)
P35S (p.Pro35Ser) in CD3E (P07766) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of not specified; Immunodeficiency 18; not provided. 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.
P35S (p.Pro35Ser) variant details
- p.Pro35Ser
- rs143949187
- ClinGen CA6301611
- ClinVar RCV000527609
- ClinVar RCV003401294
- Benign/Likely benign
- not specified; Immunodeficiency 18; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0785
- REVEL 0.04
- MetaLR 0.05
- MetaSVM -1.09
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Benign/Likely benign (not specified; Immunodeficiency 18; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available