V25L (p.Val25Leu) variant of CHEK2 (O96017)
V25L (p.Val25Leu) in CHEK2 (O96017) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Familial cancer of breast. The record also includes structural context.
V25L (p.Val25Leu) variant details
- p.Val25Leu
- NCI-TCGA Cosmic COSV6042
- 1000Genomes rs142243299
- ExAC rs142243299
- gnomAD rs142243299
- Uncertain significance
- Familial cancer of breast
- Missense
- ClinVar: Uncertain significance (Familial cancer of breast)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available