S3K (p.Ser3Lys) variant of XRCC2 (DNA repair protein XRCC2)
S3K (p.Ser3Lys) in XRCC2 (DNA repair protein XRCC2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S3K (p.Ser3Lys) variant details
- p.Ser3Lys
- rs1563035900
- gnomAD 7-152676072-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.504
- CADD 33.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available