D32D (p.Asp32Asp) variant of CLCN5 (P51795)
D32D (p.Asp32Asp) in CLCN5 (P51795) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D32D (p.Asp32Asp) variant details
- p.Asp32Asp
- gnomAD X-50042395-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 8.90
- Most common in the Non-Finnish European population (allele frequency 2.5e-06)
- Structural context available
- Literature evidence available