G24W (p.Gly24Trp) variant of FHL1 (Q13642)
G24W (p.Gly24Trp) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24W (p.Gly24Trp) variant details
- p.Gly24Trp
- gnomAD X-136206478-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.89
- CADD 29.10
- 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 -0.436
- Literature evidence available