C43Y (p.Cys43Tyr) variant of FHL1 (Q13642)
C43Y (p.Cys43Tyr) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
C43Y (p.Cys43Tyr) variant details
- p.Cys43Tyr
- gnomAD X-136206524-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.82
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- 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 -0.149
- Literature evidence available