L37L (p.Leu37Leu) variant of SIX1 (Homeobox protein SIX1)
L37L (p.Leu37Leu) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L37L (p.Leu37Leu) variant details
- p.Leu37Leu
- rs1001409064
- gnomAD 14-60649081-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.323
- CADD 14.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.364
- Literature evidence available