S37N (p.Ser37Asn) variant of SMAD3 (SMAD family member 3)
S37N (p.Ser37Asn) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aneurysm-osteoarthritis syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
S37N (p.Ser37Asn) variant details
- p.Ser37Asn
- rs1555405107
- ClinGen CA393202911
- ClinVar RCV004016621
- Uncertain significance
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.552
- REVEL 0.36
- AlphaMissense 0.99
- MetaLR 0.60
- MetaSVM 0.48
- CADD 24.30
- PolyPhen-2 0.74
- ClinVar: Uncertain significance (Aneurysm-osteoarthritis syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)