R17I (p.Arg17Ile) variant of NBN (Nibrin)
R17I (p.Arg17Ile) in NBN (Nibrin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R17I (p.Arg17Ile) variant details
- p.Arg17Ile
- NCI-TCGA Cosmic COSV5537
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.19
- CADD 26.90
- PolyPhen-2 0.76
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available