T49I (p.Thr49Ile) variant of NBN (Nibrin)
T49I (p.Thr49Ile) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs1450189149
- ClinGen CA371662985
- ClinVar RCV001863627
- gnomAD rs1450189149
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.05
- CADD 23.00
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Uncertain significance (Microcephaly, normal intelligence and immunodeficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)