S83F (p.Ser83Phe) variant of IL2RB (P14784)
S83F (p.Ser83Phe) in IL2RB (P14784) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and published literature.
S83F (p.Ser83Phe) variant details
- p.Ser83Phe
- rs2228143
- ClinGen CA10216683
- ClinVar RCV000962770
- ClinVar RCV003916094
- Benign
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.40
- CADD 19.50
- PolyPhen-2 0.03
- SIFT 0.17
- ClinVar: Benign (not specified; not provided)
- EBI: Benign (in dbSNP:rs2228143)
- UniProt: Benign (in dbSNP:rs2228143)
- Most common in the HGDP:MANDENKA population (allele frequency 0.23)
- Literature evidence available