L7F (p.Leu7Phe) variant of COL1A1 (Collagen alpha-1(I) chain)
L7F (p.Leu7Phe) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- ExAC rs764193520
- gnomAD rs764193520
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 22.70
- PolyPhen-2 0.16
- SIFT 0.52
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available