M145K (p.Met145Lys) variant of IL2RG (P31785)
M145K (p.Met145Lys) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Inborn genetic diseases; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
M145K (p.Met145Lys) variant details
- p.Met145Lys
- rs751970923
- ClinGen CA10443880
- ClinVar RCV001401617
- ClinVar RCV003898409
- Likely benign
- Inborn genetic diseases; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.37
- CADD 0.06
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Inborn genetic diseases; X-linked severe combined immunodeficien)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)