p.Ser41 Pro48del variant of CLCN5 (P51795)
p.Ser41 Pro48del in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ser41 Pro48del variant details
- gnomAD X-50042418-TCTCCA
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.505
- CADD 17.80
- Population evidence available
- Structural context available
- Literature evidence available