K45R (p.Lys45Arg) variant of FHL1 (Q13642)
K45R (p.Lys45Arg) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K45R (p.Lys45Arg) variant details
- p.Lys45Arg
- rs1226091388
- gnomAD X-136206521-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.22
- AlphaMissense 0.08
- MetaLR 0.41
- MetaSVM -0.55
- CADD 18.30
- PolyPhen-2 0.00
- 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 -0.416
- Literature evidence available