P15S (p.Pro15Ser) variant of NBN (Nibrin)
P15S (p.Pro15Ser) 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 0.31 / 1. The record also includes published literature and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs1563584802
- ClinGen CA371663717
- ClinVar RCV002039218
- Ensembl rs1563584802
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- AlphaMissense 0.12
- MetaLR 0.04
- MetaSVM -1.10
- PolyPhen-2 0.84
- SIFT 0.32
- MutPred 0.50
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)