S51E (p.Ser51Glu) variant of FHL1 (Q13642)
S51E (p.Ser51Glu) in FHL1 (Q13642) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
S51E (p.Ser51Glu) variant details
- p.Ser51Glu
- gnomAD X-136196848-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 16.70
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.487
- Literature evidence available