P64S (p.Pro64Ser) variant of NBN (Nibrin)
P64S (p.Pro64Ser) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Aplastic anemia; Hereditary cancer-predisposing syndrome; Microcephaly, normal i. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
P64S (p.Pro64Ser) variant details
- p.Pro64Ser
- rs267602038
- ClinGen CA4803023
- ClinVar RCV000670697
- ClinVar RCV001013653
- Uncertain significance
- Aplastic anemia; Hereditary cancer-predisposing syndrome; Microcephaly, normal i
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.50
- AlphaMissense 0.29
- MetaLR 0.71
- MetaSVM 0.49
- CADD 24.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Aplastic anemia; Hereditary cancer-predisposing syndrome; Microc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- 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)