Y47H (p.Tyr47His) variant of COL1A1 (Collagen alpha-1(I) chain)
Y47H (p.Tyr47His) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
Y47H (p.Tyr47His) variant details
- p.Tyr47His
- TOPMed rs1373652132
- gnomAD rs1373652132
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.28
- ESM-1b 0.94
- AlphaMissense 0.53
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available