G16E (p.Gly16Glu) variant of CLCN5 (P51795)
G16E (p.Gly16Glu) in CLCN5 (P51795) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- gnomAD rs1557187256
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.29
- MetaLR 0.38
- MetaSVM -0.54
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.45
- Most common in the South Asian population (allele frequency 4.3e-05)
- Structural context available