G118S (p.Gly118Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G118S (p.Gly118Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome, cardiac valvular type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
G118S (p.Gly118Ser) variant details
- p.Gly118Ser
- gnomAD rs1206507983
- Likely pathogenic
- Ehlers-Danlos syndrome, cardiac valvular type
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.95
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, cardiac valvular type)
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available