F39Y (p.Phe39Tyr) variant of COL6A1 (Collagen alpha-1(VI) chain)
F39Y (p.Phe39Tyr) in COL6A1 (Collagen alpha-1(VI) chain) is a missense 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.
F39Y (p.Phe39Tyr) variant details
- p.Phe39Tyr
- gnomAD 21-45982652-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.45
- MetaLR 0.34
- MetaSVM -0.54
- CADD 23.90
- PolyPhen-2 0.18
- SIFT 0.50
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available