D19Y (p.Asp19Tyr) variant of CLCN1 (Chloride channel protein 1)
D19Y (p.Asp19Tyr) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
D19Y (p.Asp19Tyr) variant details
- p.Asp19Tyr
- gnomAD 7-143316267-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.28
- CADD 23.40
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available