M8W (p.Met8Trp) variant of CLCN5 (P51795)
M8W (p.Met8Trp) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
M8W (p.Met8Trp) variant details
- p.Met8Trp
- gnomAD X-50042318-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available