D50G (p.Asp50Gly) variant of FHL1 (Q13642)
D50G (p.Asp50Gly) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
D50G (p.Asp50Gly) variant details
- p.Asp50Gly
- gnomAD X-136206530-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.713
- REVEL 0.83
- CADD 25.90
- PolyPhen-2 0.37
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 7.1e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.874
- Literature evidence available