P24L (p.Pro24Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
P24L (p.Pro24Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
P24L (p.Pro24Leu) variant details
- p.Pro24Leu
- rs387907412
- ClinGen CA216014
- ClinVar RCV000054568
- ExAC rs387907412
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.63
- CADD 22.60
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available