M109I (p.Met109Ile) variant of COL6A3 (Collagen alpha-3(VI) chain)
M109I (p.Met109Ile) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
M109I (p.Met109Ile) variant details
- p.Met109Ile
- ExAC rs748233523
- TOPMed rs748233523
- gnomAD rs748233523
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.18
- MetaLR 0.19
- MetaSVM -0.92
- CADD 19.80
- PolyPhen-2 0.01
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available