L12F (p.Leu12Phe) variant of COL1A1 (Collagen alpha-1(I) chain)
L12F (p.Leu12Phe) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L12F (p.Leu12Phe) variant details
- p.Leu12Phe
- ExAC rs745701599
- gnomAD rs745701599
- Missense
- Variant Prioritization Score for Impact Estimate 0.545
- REVEL 0.62
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the 1KG:ACB population (allele frequency 0.038)
- Structural context available