M143I (p.Met143Ile) variant of STAT3 (P40763)
M143I (p.Met143Ile) in STAT3 (P40763) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
M143I (p.Met143Ile) variant details
- p.Met143Ile
- rs17878478
- UniProt VAR 018679
- ESP rs17878478
- ExAC rs17878478
- Likely benign
- Hyper-IgE recurrent infection syndrome 1, autosomal dominant; STAT3 gain of func
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.09
- CADD 21.30
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Likely benign (Hyper-IgE recurrent infection syndrome 1, autosomal dominant; ST)
- UniProt: Likely benign (in dbSNP:rs17878478)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available