P10A (p.Pro10Ala) variant of NBN (Nibrin)
P10A (p.Pro10Ala) 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 0.04 / 1. The record also includes population frequency data, published literature, and structural context.
P10A (p.Pro10Ala) variant details
- p.Pro10Ala
- rs758228844
- ClinGen CA371664152
- ClinVar RCV001971163
- ExAC rs758228844
- Uncertain significance
- Microcephaly, normal intelligence and immunodeficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.0438
- REVEL 0.02
- CADD 2.50
- PolyPhen-2 0.00
- SIFT 0.26
- 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 2.7e-06)
- Structural context available
- Cited in: Nijmegen Breakage Syndrome. (PMID 20301355)