P64R (p.Pro64Arg) variant of NBN (Nibrin)
P64R (p.Pro64Arg) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Aplastic anemia; Microcephaly, normal i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P64R (p.Pro64Arg) variant details
- p.Pro64Arg
- rs1563581492
- ClinGen CA371662601
- ClinVar RCV000688507
- ClinVar RCV001805805
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Aplastic anemia; Microcephaly, normal i
- Missense
- Variant Prioritization Score for Impact Estimate 0.681
- REVEL 0.76
- CADD 28.60
- PolyPhen-2 0.86
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Aplastic anemia; Microc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)