A37A (p.Ala37Ala) variant of FHL1 (Q13642)
A37A (p.Ala37Ala) 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.
A37A (p.Ala37Ala) variant details
- p.Ala37Ala
- rs1415924555
- gnomAD X-136196862-A-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.541
- CADD 21.40
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.0816
- Literature evidence available