Q24R (p.Gln24Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
Q24R (p.Gln24Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
Q24R (p.Gln24Arg) variant details
- p.Gln24Arg
- gnomAD rs1472271077
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- Structural context available