K52E (p.Lys52Glu) variant of FHL1 (Q13642)
K52E (p.Lys52Glu) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K52E (p.Lys52Glu) variant details
- p.Lys52Glu
- rs754421860
- gnomAD X-136206532-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.44
- AlphaMissense 0.71
- MetaLR 0.74
- MetaSVM 0.55
- CADD 22.70
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.835
- Literature evidence available