L30L (p.Leu30Leu) variant of CLCN5 (P51795)
L30L (p.Leu30Leu) in CLCN5 (P51795) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- gnomAD X-50042389-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 8.47
- Population evidence available
- Structural context available
- Literature evidence available