S2S (p.Ser2Ser) variant of RAD50 (DNA repair protein RAD50)
S2S (p.Ser2Ser) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S2S (p.Ser2Ser) variant details
- p.Ser2Ser
- rs2149830047
- gnomAD 5-132557330-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.354
- CADD 14.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available