K34del (p.Lys34del) variant of FHL1 (Q13642)
K34del (p.Lys34del) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K34del (p.Lys34del) variant details
- gnomAD X-136206479-GGAA-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.654
- CADD 20.40
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.16
- Literature evidence available