G324S (p.Gly324Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
G324S (p.Gly324Ser) in COL5A2 (Collagen alpha-2(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome, classic type, 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G324S (p.Gly324Ser) variant details
- p.Gly324Ser
- rs1686477306
- ClinGen CA349856213
- ClinVar RCV003993593
- TOPMed rs1686477306
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)