F54F (p.Phe54Phe) variant of CAV3 (Caveolin-3)
F54F (p.Phe54Phe) in CAV3 (Caveolin-3) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
F54F (p.Phe54Phe) variant details
- p.Phe54Phe
- gnomAD 3-8745573-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.129
- CADD 6.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available