P6A (p.Pro6Ala) variant of NBN (Nibrin)
P6A (p.Pro6Ala) in NBN (Nibrin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Microcephaly, normal intelligence and immunodeficiency; not specified; Hereditar. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
P6A (p.Pro6Ala) variant details
- p.Pro6Ala
- rs730881859
- ClinGen CA4803106
- ClinVar RCV001208049
- ClinVar RCV002402609
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency; not specified; Hereditar
- Missense
- Variant Prioritization Score for Impact Estimate 0.241
- REVEL 0.16
- AlphaMissense 0.20
- MetaLR 0.07
- MetaSVM -1.05
- CADD 23.40
- PolyPhen-2 0.43
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency; not spec)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)