L30L (p.Leu30Leu) variant of SIX1 (Homeobox protein SIX1)
L30L (p.Leu30Leu) in SIX1 (Homeobox protein SIX1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1402174239
- gnomAD 14-60649100-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.355
- CADD 14.20
- Population evidence available
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score -0.102
- Literature evidence available