Q21Q (p.Gln21Gln) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q21Q (p.Gln21Gln) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Q21Q (p.Gln21Gln) variant details
- p.Gln21Gln
- rs2078398273
- gnomAD 21-46111539-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.374
- CADD 10.00
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available