L70L (p.Leu70Leu) variant of SIX1 (Homeobox protein SIX1)
L70L (p.Leu70Leu) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L70L (p.Leu70Leu) variant details
- p.Leu70Leu
- rs1350311733
- gnomAD 14-60648980-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 14.20
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available