G32S (p.Gly32Ser) variant of COL2A1 (Collagen alpha-1(II) chain)
G32S (p.Gly32Ser) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
G32S (p.Gly32Ser) variant details
- p.Gly32Ser
- rs779475416
- ClinGen CA6536094
- ClinVar RCV003238537
- ExAC rs779475416
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.23
- CADD 20.40
- PolyPhen-2 0.21
- SIFT 0.74
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available