L13F (p.Leu13Phe) variant of COL1A2 (Collagen alpha-2(I) chain)
L13F (p.Leu13Phe) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L13F (p.Leu13Phe) variant details
- p.Leu13Phe
- gnomAD 7-94395068-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.48
- CADD 24.30
- PolyPhen-2 0.83
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available