T44A (p.Thr44Ala) variant of IL2RG (P31785)
T44A (p.Thr44Ala) in IL2RG (P31785) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; X-linked severe combined immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T44A (p.Thr44Ala) variant details
- p.Thr44Ala
- rs7885041
- ClinGen CA10443921
- ClinVar RCV001468819
- ClinVar RCV003130523
- Conflicting interpretations
- not provided; X-linked severe combined immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.22
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Conflicting classifications of pathogenicity (not provided; X-linked severe combined immunodeficiency)
- EBI: Likely benign (in dbSNP:rs7885041)
- UniProt: Likely benign (in dbSNP:rs7885041)
- Most common in the Latino/Admixed American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: X-Linked Severe Combined Immunodeficiency. (PMID 20301584)