Q23L (p.Gln23Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
Q23L (p.Gln23Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- gnomAD rs1328377093
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.60
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available