K52Q (p.Lys52Gln) variant of FHL1 (Q13642)
K52Q (p.Lys52Gln) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K52Q (p.Lys52Gln) variant details
- p.Lys52Gln
- rs754421860
- gnomAD X-136206532-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.59
- AlphaMissense 0.71
- MetaLR 0.74
- MetaSVM 0.55
- CADD 23.90
- PolyPhen-2 0.99
- Most common in the Non-Finnish European population (allele frequency 9.5e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.835
- Literature evidence available