G24R (p.Gly24Arg) variant of FHL1 (Q13642)
G24R (p.Gly24Arg) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- gnomAD X-136206478-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.88
- CADD 27.60
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.436
- Literature evidence available