L66F (p.Leu66Phe) variant of NBN (Nibrin)
L66F (p.Leu66Phe) in NBN (Nibrin) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
L66F (p.Leu66Phe) variant details
- p.Leu66Phe
- ExAC rs757735005
- gnomAD rs757735005
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.674
- REVEL 0.79
- CADD 24.80
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available