Y9C (p.Tyr9Cys) variant of FHL1 (Q13642)
Y9C (p.Tyr9Cys) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
Y9C (p.Tyr9Cys) variant details
- p.Tyr9Cys
- rs781161801
- gnomAD X-136196813-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 15.80
- Most common in the South Asian population (allele frequency 0.0002)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.713
- Literature evidence available