K98E (p.Lys98Glu) variant of IL2RG (P31785)
K98E (p.Lys98Glu) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
K98E (p.Lys98Glu) variant details
- p.Lys98Glu
- rs776710796
- ClinGen CA10443891
- ClinVar RCV000990860
- ExAC rs776710796
- Uncertain significance
- X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.377
- REVEL 0.55
- CADD 9.15
- PolyPhen-2 0.09
- SIFT 0.57
- ClinVar: Uncertain significance (X-linked severe combined immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.8e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)