G25V (p.Gly25Val) variant of SMAD3 (SMAD family member 3)
G25V (p.Gly25Val) 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 not specified; Aneurysm-osteoarthritis syndrome; not provided. 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.
G25V (p.Gly25Val) variant details
- p.Gly25Val
- rs191612061
- ClinGen CA062652
- NCI-TCGA Cosmic COSV5928
- ClinVar RCV000530170
- Uncertain significance
- not specified; Aneurysm-osteoarthritis syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.43
- CADD 24.80
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (not specified; Aneurysm-osteoarthritis syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)