L34L (p.Leu34Leu) variant of SIX1 (Homeobox protein SIX1)
L34L (p.Leu34Leu) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L34L (p.Leu34Leu) variant details
- p.Leu34Leu
- rs1895010575
- gnomAD 14-60649088-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.273
- CADD 13.60
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.641
- Literature evidence available