C65C (p.Cys65Cys) variant of FHL1 (Q13642)
C65C (p.Cys65Cys) in FHL1 (Q13642) 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.
C65C (p.Cys65Cys) variant details
- p.Cys65Cys
- rs1192668098
- gnomAD X-136206552-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.128
- CADD 6.75
- Most common in the East Asian population (allele frequency 6.6e-05)
- Structural context available
- Literature evidence available