N55K (p.Asn55Lys) variant of CLCN1 (Chloride channel protein 1)
N55K (p.Asn55Lys) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
N55K (p.Asn55Lys) variant details
- p.Asn55Lys
- gnomAD 7-143316377-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.10
- CADD 9.36
- PolyPhen-2 0.06
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available