H55Q (p.His55Gln) variant of FHL1 (Q13642)
H55Q (p.His55Gln) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
H55Q (p.His55Gln) variant details
- p.His55Gln
- rs1305364903
- gnomAD X-136206510-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.24
- CADD 17.20
- Population evidence available
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.07
- Literature evidence available