L25F (p.Leu25Phe) variant of COL1A2 (Collagen alpha-2(I) chain)
L25F (p.Leu25Phe) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L25F (p.Leu25Phe) variant details
- p.Leu25Phe
- gnomAD rs1450036702
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.42
- CADD 22.70
- PolyPhen-2 0.53
- SIFT 0.71
- Population evidence available
- Structural context available