A122V (p.Ala122Val) variant of STAT3 (P40763)
A122V (p.Ala122Val) in STAT3 (P40763) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A122V (p.Ala122Val) variant details
- p.Ala122Val
- rs774724351
- ClinGen CA8575660
- cosmic curated COSV52895
- ClinVar RCV001048762
- Likely benign
- STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.28
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.45
- ClinVar: Likely benign (STAT3 gain of function; Hyper-IgE recurrent infection syndrome 1)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available
- Cited in: STAT3 Hyper IgE Syndrome. (PMID 20301786)