M2T (p.Met2Thr) variant of COL5A2 (Collagen alpha-2(V) chain)
M2T (p.Met2Thr) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs762874073
- ClinGen CA324549
- ClinVar RCV000200003
- ClinVar RCV002229099
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.60
- CADD 25.10
- PolyPhen-2 0.60
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 2; Ehlers-Danlos syndrome,)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 5.7e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)