G215V (p.Gly215Val) variant of IL7R (P16871)
G215V (p.Gly215Val) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Severe combined immunodeficiency disease; Immunodeficiency 104. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
G215V (p.Gly215Val) variant details
- p.Gly215Val
- rs193922645
- ClinGen CA214055
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10028
- Likely pathogenic
- not provided; Severe combined immunodeficiency disease; Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.725
- REVEL 0.74
- MetaLR 0.61
- MetaSVM 0.24
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Severe combined immunodeficiency disease; Immunode)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available