S51L (p.Ser51Leu) variant of IL7R (P16871)
S51L (p.Ser51Leu) in IL7R (P16871) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency 104. 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.
S51L (p.Ser51Leu) variant details
- p.Ser51Leu
- rs138482569
- ClinGen CA160084
- cosmic curated COSV57410
- ClinVar RCV000121210
- Likely benign
- Immunodeficiency 104
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.18
- CADD 12.00
- PolyPhen-2 0.21
- SIFT 0.07
- ClinVar: Likely benign (Immunodeficiency 104)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.0034)
- Structural context available