F27F (p.Phe27Phe) variant of RAD50 (DNA repair protein RAD50)
F27F (p.Phe27Phe) in RAD50 (DNA repair protein RAD50) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
F27F (p.Phe27Phe) variant details
- p.Phe27Phe
- rs868228536
- gnomAD 5-132557405-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.429
- AlphaMissense 0.98
- MetaLR 0.12
- MetaSVM -1.02
- CADD 15.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available
- Literature evidence available