Q26K (p.Gln26Lys) variant of COL1A2 (Collagen alpha-2(I) chain)
Q26K (p.Gln26Lys) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q26K (p.Gln26Lys) variant details
- p.Gln26Lys
- gnomAD 7-94397753-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.18
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available
- Literature evidence available