T20M (p.Thr20Met) variant of COL1A1 (Collagen alpha-1(I) chain)
T20M (p.Thr20Met) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
T20M (p.Thr20Met) variant details
- p.Thr20Met
- gnomAD rs1301012690
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.20
- CADD 24.90
- PolyPhen-2 0.49
- SIFT 0.26
- Most common in the 1KG:YRI population (allele frequency 0.0043)
- Structural context available