V43M (p.Val43Met) variant of IL6R (P08887)
V43M (p.Val43Met) in IL6R (P08887) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyper-IgE recurrent infection syndrome 5, autosomal recessive; not specified; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V43M (p.Val43Met) variant details
- p.Val43Met
- rs757025871
- ClinGen CA1128926
- cosmic curated COSV59816
- ClinVar RCV001869978
- Uncertain significance
- Hyper-IgE recurrent infection syndrome 5, autosomal recessive; not specified; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.23
- CADD 22.80
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Uncertain significance (Hyper-IgE recurrent infection syndrome 5, autosomal recessive; n)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00036)
- Structural context available