F21* (p.Phe21Ter) variant of CLCN5 (P51795)
F21* (p.Phe21Ter) 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.
F21* (p.Phe21Ter) variant details
- p.Phe21Ter
- rs1557187265
- gnomAD X-50042360-TTCCA-
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.557
- CADD 24.60
- Most common in the African/African-American population (allele frequency 3.9e-05)
- Structural context available
- Literature evidence available