P64T (p.Pro64Thr) variant of NBN (Nibrin)
P64T (p.Pro64Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
P64T (p.Pro64Thr) variant details
- p.Pro64Thr
- rs267602038
- ClinGen CA371662604
- ClinVar RCV004513831
- ExAC rs267602038
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.61
- AlphaMissense 0.29
- MetaLR 0.71
- MetaSVM 0.49
- CADD 25.50
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-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)