P46P (p.Pro46Pro) variant of COL1A2 (Collagen alpha-2(I) chain)
P46P (p.Pro46Pro) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
P46P (p.Pro46Pro) variant details
- p.Pro46Pro
- rs148639088
- gnomAD 7-94400201-A-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.175
- CADD 13.30
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Literature evidence available