K52K (p.Lys52Lys) variant of FHL1 (Q13642)
K52K (p.Lys52Lys) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K52K (p.Lys52Lys) variant details
- p.Lys52Lys
- gnomAD X-136206534-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 12.10
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.835
- Literature evidence available