M65V (p.Met65Val) variant of IL2RA (P01589)
M65V (p.Met65Val) in IL2RA (P01589) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency due to CD25 deficiency; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
M65V (p.Met65Val) variant details
- p.Met65Val
- rs372359952
- ClinGen CA202296622
- ClinVar RCV000641700
- ClinVar RCV004025625
- Uncertain significance
- Immunodeficiency due to CD25 deficiency; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0988
- REVEL 0.07
- CADD 10.80
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (Immunodeficiency due to CD25 deficiency; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00012)
- Structural context available