I67S (p.Ile67Ser) variant of SMAD3 (SMAD family member 3)
I67S (p.Ile67Ser) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Aneurysm-osteoarthritis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
I67S (p.Ile67Ser) variant details
- p.Ile67Ser
- rs2140189193
- ClinVar RCV004594829
- Likely pathogenic
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.792
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Likely pathogenic (Aneurysm-osteoarthritis syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)