D37N (p.Asp37Asn) variant of COL1A2 (Collagen alpha-2(I) chain)
D37N (p.Asp37Asn) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D37N (p.Asp37Asn) variant details
- p.Asp37Asn
- 1000Genomes rs2115856187
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.47
- CADD 27.30
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available