G5A (p.Gly5Ala) variant of COL2A1 (Collagen alpha-1(II) chain)
G5A (p.Gly5Ala) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
G5A (p.Gly5Ala) variant details
- p.Gly5Ala
- rs557340983
- ClinGen CA236497899
- ClinVar RCV001774296
- 1000Genomes rs557340983
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.21
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.82
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available