G244S (p.Gly244Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G244S (p.Gly244Ser) 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 0.92 / 1. The record also includes population frequency data and structural context.
G244S (p.Gly244Ser) variant details
- p.Gly244Ser
- Ensembl rs1584318301
- Likely pathogenic
- Ehlers-Danlos syndrome, cardiac valvular type
- Missense
- Variant Prioritization Score for Impact Estimate 0.923
- REVEL 0.97
- CADD 32.00
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, cardiac valvular type)
- UniProt: Likely pathogenic
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available