F49F (p.Phe49Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
F49F (p.Phe49Phe) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
F49F (p.Phe49Phe) variant details
- p.Phe49Phe
- rs372955675
- gnomAD 21-46112010-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 10.70
- Population evidence available
- Structural context available
- Literature evidence available