D262N (p.Asp262Asn) variant of SMAD3 (SMAD family member 3)
D262N (p.Asp262Asn) 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; not provided; Familial thoracic aortic aneurys. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
D262N (p.Asp262Asn) variant details
- p.Asp262Asn
- rs1201995588
- ClinGen CA392956258
- NCI-TCGA Cosmic COSV5928
- cosmic curated COSV59280
- Uncertain significance
- Aneurysm-osteoarthritis syndrome; not provided; Familial thoracic aortic aneurys
- Missense
- Variant Prioritization Score for Impact Estimate 0.806
- REVEL 0.83
- CADD 25.80
- PolyPhen-2 0.99
- SIFT 0.12
- ClinVar: Uncertain significance (Aneurysm-osteoarthritis syndrome; not provided; Familial thoraci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- 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)