p.Ser25 Ser26del variant of CLCN5 (P51795)
p.Ser25 Ser26del in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser25 Ser26del variant details
- gnomAD X-50042367-ACAGCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.351
- CADD 17.10
- Most common in the East Asian population (allele frequency 3.4e-05)
- Structural context available
- Literature evidence available