G101E (p.Gly101Glu) variant of COL5A2 (Collagen alpha-2(V) chain)
G101E (p.Gly101Glu) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Ehlers-Danlos syndrome, classic type, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
G101E (p.Gly101Glu) variant details
- p.Gly101Glu
- rs777070552
- ClinGen CA2023158
- ClinVar RCV001142045
- ExAC rs777070552
- Likely benign
- Ehlers-Danlos syndrome, classic type, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.395
- REVEL 0.36
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.33
- ClinVar: Likely benign (Ehlers-Danlos syndrome, classic type, 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)