R8L (p.Arg8Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
R8L (p.Arg8Leu) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
R8L (p.Arg8Leu) variant details
- p.Arg8Leu
- gnomAD 7-94395054-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.769
- REVEL 0.75
- CADD 27.70
- PolyPhen-2 0.99
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available