S103N (p.Ser103Asn) variant of IL2RG (P31785)
S103N (p.Ser103Asn) in IL2RG (P31785) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S103N (p.Ser103Asn) variant details
- p.Ser103Asn
- TOPMed rs2092261574
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.27
- CADD 19.30
- PolyPhen-2 0.03
- SIFT 0.06
- Most common in the REMAINING population (allele frequency 4.3e-05)
- Structural context available