S24C (p.Ser24Cys) variant of CHEK2 (O96017)
S24C (p.Ser24Cys) in CHEK2 (O96017) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
S24C (p.Ser24Cys) variant details
- p.Ser24Cys
- NCI-TCGA Cosmic COSV6042
- cosmic curated COSV60426
- Ensembl rs2146153708
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available