G39A (p.Gly39Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
G39A (p.Gly39Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data and structural context.
G39A (p.Gly39Ala) variant details
- p.Gly39Ala
- ExAC rs761354203
- gnomAD rs761354203
- Missense
- Variant Prioritization Score for Impact Estimate 0.883
- REVEL 0.93
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available