F4L (p.Phe4Leu) variant of CLCNKB (Chloride channel protein ClC-Kb)
F4L (p.Phe4Leu) in CLCNKB (Chloride channel protein ClC-Kb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F4L (p.Phe4Leu) variant details
- p.Phe4Leu
- rs34851419
- ClinGen CA623136
- ClinVar RCV000968510
- ClinVar RCV001289387
- Benign
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.23
- CADD 14.60
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (not provided; not specified)
- EBI: Benign (in dbSNP:rs34851419)
- UniProt: Benign (in dbSNP:rs34851419)
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available