F52Y (p.Phe52Tyr) variant of NBN (Nibrin)
F52Y (p.Phe52Tyr) in NBN (Nibrin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F52Y (p.Phe52Tyr) variant details
- p.Phe52Tyr
- Ensembl rs1812128449
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.10
- CADD 21.50
- PolyPhen-2 0.05
- SIFT 0.66
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available