T60K (p.Thr60Lys) variant of NBN (Nibrin)
T60K (p.Thr60Lys) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Aplastic anemia; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
T60K (p.Thr60Lys) variant details
- p.Thr60Lys
- rs1586109164
- ClinGen CA371662629
- ClinVar RCV001013218
- ClinVar RCV002249631
- Conflicting interpretations
- Aplastic anemia; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.25
- AlphaMissense 0.09
- MetaLR 0.43
- MetaSVM -0.59
- CADD 22.80
- PolyPhen-2 0.99
- ClinVar: Conflicting classifications of pathogenicity (Aplastic anemia; Hereditary cancer-predisposing syndrome; not sp)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-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)