L103F (p.Leu103Phe) variant of COL6A3 (Collagen alpha-3(VI) chain)
L103F (p.Leu103Phe) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
L103F (p.Leu103Phe) variant details
- p.Leu103Phe
- Ensembl rs777645044
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.69
- MetaLR 0.61
- MetaSVM 0.28
- CADD 25.20
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available