V52M (p.Val52Met) variant of COL1A1 (Collagen alpha-1(I) chain)
V52M (p.Val52Met) 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.
V52M (p.Val52Met) variant details
- p.Val52Met
- ExAC rs760300738
- TOPMed rs760300738
- gnomAD rs760300738
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.34
- ESM-1b 1.00
- AlphaMissense 0.85
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.00
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available