P49P (p.Pro49Pro) variant of COL3A1 (Collagen alpha-1(III) chain)
P49P (p.Pro49Pro) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P49P (p.Pro49Pro) variant details
- p.Pro49Pro
- gnomAD 2-188984827-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.142
- CADD 8.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available