F40F (p.Phe40Phe) variant of CLCN5 (P51795)
F40F (p.Phe40Phe) in CLCN5 (P51795) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
F40F (p.Phe40Phe) variant details
- p.Phe40Phe
- rs782515109
- gnomAD X-50042419-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 11.40
- Most common in the Non-Finnish European population (allele frequency 0.00013)
- Structural context available
- Literature evidence available