P26T (p.Pro26Thr) variant of CLCNKB (Chloride channel protein ClC-Kb)
P26T (p.Pro26Thr) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P26T (p.Pro26Thr) variant details
- p.Pro26Thr
- TOPMed rs1280512118
- gnomAD rs1280512118
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.69
- CADD 23.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available