P6T (p.Pro6Thr) variant of NBN (Nibrin)
P6T (p.Pro6Thr) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes published literature and structural context.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- rs730881859
- ClinGen CA371664186
- ClinVar RCV001052228
- ExAC rs730881859
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- AlphaMissense 0.20
- MetaLR 0.07
- MetaSVM -1.05
- PolyPhen-2 0.43
- SIFT 0.11
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)