L7F (p.Leu7Phe) variant of COL6A3 (Collagen alpha-3(VI) chain)
L7F (p.Leu7Phe) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- Ensembl rs2078452919
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.37
- MetaLR 0.85
- MetaSVM 0.44
- CADD 23.20
- PolyPhen-2 0.19
- SIFT 0.27
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available