M1K (p.Met1Lys) variant of FHL1 (Q13642)
M1K (p.Met1Lys) in FHL1 (Q13642) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- gnomAD X-136196846-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- CADD 15.40
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- FHL1 Zinc finger, LIM-type domain domainome 1.0: score -0.618
- Literature evidence available