D14N (p.Asp14Asn) variant of OPTN (Optineurin)
D14N (p.Asp14Asn) in OPTN (Optineurin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
D14N (p.Asp14Asn) variant details
- p.Asp14Asn
- ExAC rs759806041
- TOPMed rs759806041
- gnomAD rs759806041
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.34
- CADD 24.10
- PolyPhen-2 0.49
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00019)
- Structural context available