Q26P (p.Gln26Pro) variant of COL1A2 (Collagen alpha-2(I) chain)
Q26P (p.Gln26Pro) in COL1A2 (Collagen alpha-2(I) chain) is a missense 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.
Q26P (p.Gln26Pro) variant details
- p.Gln26Pro
- gnomAD 7-94397754-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.41
- CADD 20.90
- PolyPhen-2 0.06
- SIFT 0.32
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available