C48C (p.Cys48Cys) variant of CHEK1 (O14757)
C48C (p.Cys48Cys) in CHEK1 (O14757) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
C48C (p.Cys48Cys) variant details
- p.Cys48Cys
- rs1277851631
- gnomAD 11-125625811-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.212
- CADD 5.50
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available