R38G (p.Arg38Gly) variant of COL1A2 (Collagen alpha-2(I) chain)
R38G (p.Arg38Gly) in COL1A2 (Collagen alpha-2(I) 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 and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- ExAC rs776258611
- gnomAD rs776258611
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.48
- CADD 23.90
- PolyPhen-2 0.26
- SIFT 0.13
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available