A112D (p.Ala112Asp) variant of SMAD3 (SMAD family member 3)
A112D (p.Ala112Asp) 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 0.74 / 1. The record also includes published literature and structural context.
A112D (p.Ala112Asp) variant details
- p.Ala112Asp
- rs387906854
- ClinGen CA392954061
- ClinVar RCV002289060
- Uncertain significance
- Aneurysm-osteoarthritis syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- AlphaMissense 0.97
- MetaLR 0.69
- MetaSVM 0.63
- PolyPhen-2 0.45
- SIFT 0.01
- EVE 0.74
- ClinVar: Uncertain significance (Aneurysm-osteoarthritis syndrome)
- EBI: Variant of uncertain significance (in LDS3)
- UniProt: Uncertain significance (in LDS3)
- 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)