F28F (p.Phe28Phe) variant of RAD50 (DNA repair protein RAD50)
F28F (p.Phe28Phe) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F28F (p.Phe28Phe) variant details
- p.Phe28Phe
- rs2149830144
- gnomAD 5-132557408-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 17.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available