S22P (p.Ser22Pro) variant of IL2RB (P14784)
S22P (p.Ser22Pro) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- rs145316401
- ClinGen CA10216775
- ClinVar RCV002027140
- 1000Genomes rs145316401
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.42
- CADD 0.01
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.05)