K70K (p.Lys70Lys) variant of FHL1 (Q13642)
K70K (p.Lys70Lys) in FHL1 (Q13642) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
K70K (p.Lys70Lys) variant details
- p.Lys70Lys
- gnomAD X-136207030-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 13.60
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available