S77R (p.Ser77Arg) variant of IL2RG (P31785)
S77R (p.Ser77Arg) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S77R (p.Ser77Arg) variant details
- p.Ser77Arg
- Ensembl rs1556330951
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.55
- CADD 23.40
- PolyPhen-2 0.16
- SIFT 0.12
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available