S17V (p.Ser17Val) variant of CLCN5 (P51795)
S17V (p.Ser17Val) in CLCN5 (P51795) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S17V (p.Ser17Val) variant details
- p.Ser17Val
- gnomAD X-50042343-AG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.397
- CADD 22.00
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available