P64L (p.Pro64Leu) variant of NBN (Nibrin)
P64L (p.Pro64Leu) 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; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P64L (p.Pro64Leu) variant details
- p.Pro64Leu
- rs1563581492
- ClinGen CA371662600
- ClinVar RCV000772229
- ClinVar RCV001217448
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.70
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)