V54A (p.Val54Ala) variant of NBN (Nibrin)
V54A (p.Val54Ala) 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 0.32 / 1. The record also includes published literature and structural context.
V54A (p.Val54Ala) variant details
- p.Val54Ala
- rs769700749
- ClinGen CA371662913
- ClinVar RCV001306333
- ExAC rs769700749
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.10
- MetaLR 0.16
- MetaSVM -0.98
- PolyPhen-2 0.06
- SIFT 0.25
- MutPred 0.67
- 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)