D45E (p.Asp45Glu) variant of CLCN5 (P51795)
D45E (p.Asp45Glu) in CLCN5 (P51795) is a missense 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.
D45E (p.Asp45Glu) variant details
- p.Asp45Glu
- gnomAD X-50042434-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.37
- MetaLR 0.73
- MetaSVM 0.17
- CADD 22.30
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available
- Literature evidence available