S8S (p.Ser8Ser) variant of RAD50 (DNA repair protein RAD50)
S8S (p.Ser8Ser) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S8S (p.Ser8Ser) variant details
- p.Ser8Ser
- rs146833872
- gnomAD 5-132557348-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 14.40
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available