P28P (p.Pro28Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
P28P (p.Pro28Pro) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P28P (p.Pro28Pro) variant details
- p.Pro28Pro
- rs140890046
- gnomAD 21-46111560-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0822
- CADD 0.22
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Literature evidence available