P64A (p.Pro64Ala) variant of NBN (Nibrin)
P64A (p.Pro64Ala) 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 0.66 / 1. The record also includes published literature and structural context.
P64A (p.Pro64Ala) variant details
- p.Pro64Ala
- rs267602038
- ClinGen CA371662603
- ClinVar RCV001901893
- ExAC rs267602038
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.656
- AlphaMissense 0.29
- MetaLR 0.71
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.58
- 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)