K34R (p.Lys34Arg) variant of FHL1 (Q13642)
K34R (p.Lys34Arg) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K34R (p.Lys34Arg) variant details
- p.Lys34Arg
- rs1245907750
- gnomAD X-136206482-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.52
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.45
- Most common in the East Asian population (allele frequency 0.00028)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.16
- Literature evidence available