Q29P (p.Gln29Pro) variant of COL2A1 (Collagen alpha-1(II) chain)
Q29P (p.Gln29Pro) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q29P (p.Gln29Pro) variant details
- p.Gln29Pro
- gnomAD rs1190060899
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.22
- CADD 23.10
- PolyPhen-2 0.51
- SIFT 0.25
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available