N39Y (p.Asn39Tyr) variant of CLCN1 (Chloride channel protein 1)
N39Y (p.Asn39Tyr) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N39Y (p.Asn39Tyr) variant details
- p.Asn39Tyr
- gnomAD rs1220204810
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.22
- CADD 23.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available