Q21P (p.Gln21Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q21P (p.Gln21Pro) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
Q21P (p.Gln21Pro) variant details
- p.Gln21Pro
- gnomAD 21-46111538-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.44
- CADD 23.00
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available