L29F (p.Leu29Phe) variant of FHL1 (Q13642)
L29F (p.Leu29Phe) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L29F (p.Leu29Phe) variant details
- p.Leu29Phe
- gnomAD X-136206474-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.88
- CADD 23.80
- 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 -0.878
- Literature evidence available