F73F (p.Phe73Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
F73F (p.Phe73Phe) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F73F (p.Phe73Phe) variant details
- p.Phe73Phe
- rs374336669
- gnomAD 21-46112082-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.14
- CADD 8.38
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available