D39I (p.Asp39Ile) variant of CLCN5 (P51795)
D39I (p.Asp39Ile) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D39I (p.Asp39Ile) variant details
- p.Asp39Ile
- gnomAD X-50042412-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.559
- CADD 25.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available