F15Y (p.Phe15Tyr) variant of RAD50 (DNA repair protein RAD50)
F15Y (p.Phe15Tyr) in RAD50 (DNA repair protein RAD50) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
F15Y (p.Phe15Tyr) variant details
- p.Phe15Tyr
- gnomAD 5-132557368-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.01
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available