G48D (p.Gly48Asp) variant of FHL1 (Q13642)
G48D (p.Gly48Asp) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G48D (p.Gly48Asp) variant details
- p.Gly48Asp
- gnomAD X-136206575-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- REVEL 0.57
- CADD 24.20
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.501
- Literature evidence available