I41F (p.Ile41Phe) variant of NBN (Nibrin)
I41F (p.Ile41Phe) 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. 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.
I41F (p.Ile41Phe) variant details
- p.Ile41Phe
- rs1563584220
- ClinGen CA371663107
- ClinVar RCV001856077
- Ensembl rs1563584220
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.45
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)