F31F (p.Phe31Phe) variant of COL6A1 (Collagen alpha-1(VI) chain)
F31F (p.Phe31Phe) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F31F (p.Phe31Phe) variant details
- p.Phe31Phe
- rs753371577
- gnomAD 21-45981943-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.493
- CADD 13.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available