V65I (p.Val65Ile) variant of NBN (Nibrin)
V65I (p.Val65Ile) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Hereditary cancer-predisposing syndrome; Microcephaly, normal int. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
V65I (p.Val65Ile) variant details
- p.Val65Ile
- rs778998026
- ClinGen CA4803022
- ClinVar RCV000565097
- ClinVar RCV001039847
- Conflicting interpretations
- not specified; Hereditary cancer-predisposing syndrome; Microcephaly, normal int
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.24
- AlphaMissense 0.09
- MetaLR 0.48
- MetaSVM -0.78
- CADD 2.20
- PolyPhen-2 0.09
- ClinVar: Conflicting classifications of pathogenicity (not specified; Hereditary cancer-predisposing syndrome; Microcep)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- 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)