V19I (p.Val19Ile) variant of CD3E (P07766)
V19I (p.Val19Ile) 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 0.20 / 1. The record also includes population frequency data and structural context.
V19I (p.Val19Ile) variant details
- p.Val19Ile
- rs143630318
- ClinGen CA6301567
- cosmic curated COSV62345
- ClinVar RCV001696915
- Conflicting interpretations
- not provided; Immunodeficiency 18
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.02
- MetaLR 0.05
- MetaSVM -1.05
- CADD 7.86
- PolyPhen-2 0.00
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (not provided; Immunodeficiency 18)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available