K34K (p.Lys34Lys) variant of FHL1 (Q13642)
K34K (p.Lys34Lys) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
K34K (p.Lys34Lys) variant details
- p.Lys34Lys
- rs140149764
- gnomAD X-136206498-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 11.60
- Most common in the 1KG:LWK population (allele frequency 0.015)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -1.16
- Literature evidence available