F18V (p.Phe18Val) variant of CLCN5 (P51795)
F18V (p.Phe18Val) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
F18V (p.Phe18Val) variant details
- p.Phe18Val
- ExAC rs782744227
- TOPMed rs782744227
- gnomAD rs782744227
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.22
- MetaLR 0.51
- MetaSVM -0.40
- CADD 20.20
- PolyPhen-2 0.09
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available