T31I (p.Thr31Ile) variant of CLCN1 (Chloride channel protein 1)
T31I (p.Thr31Ile) in CLCN1 (Chloride channel protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
T31I (p.Thr31Ile) variant details
- p.Thr31Ile
- ExAC rs767076900
- TOPMed rs767076900
- gnomAD rs767076900
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.50
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available