G16D (p.Gly16Asp) variant of FHL1 (Q13642)
G16D (p.Gly16Asp) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G16D (p.Gly16Asp) variant details
- p.Gly16Asp
- gnomAD X-136206407-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.26
- CADD 21.80
- PolyPhen-2 0.90
- 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 -0.505
- Literature evidence available