T31N (p.Thr31Asn) variant of CLCN1 (Chloride channel protein 1)
T31N (p.Thr31Asn) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
T31N (p.Thr31Asn) variant details
- p.Thr31Asn
- ExAC rs767076900
- TOPMed rs767076900
- gnomAD rs767076900
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.40
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.04
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available