Q23L (p.Gln23Leu) variant of COL1A1 (Collagen alpha-1(I) chain)
Q23L (p.Gln23Leu) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Q23L (p.Gln23Leu) variant details
- p.Gln23Leu
- TOPMed rs936697325
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.43
- ESM-1b 0.65
- AlphaMissense 0.25
- CADD 23.60
- PolyPhen-2 0.08
- SIFT 0.54
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available