G101R (p.Gly101Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G101R (p.Gly101Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
G101R (p.Gly101Arg) variant details
- p.Gly101Arg
- TOPMed rs1217575381
- gnomAD rs1217575381
- Missense
- Variant Prioritization Score for Impact Estimate 0.565
- REVEL 0.52
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available