M1? variant of COL5A2 (Collagen alpha-2(V) chain)
M1? in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes variant effect predictions, population frequency data, published literature, and structural context.
M1? variant details
- rs563606558
- ClinGen CA2023219
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV000440501
- Likely pathogenic
- Missense
- MetaLR 0.47
- MetaSVM -0.64
- PolyPhen-2 0.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)