N2I (p.Asn2Ile) variant of USH2A (Usherin)
N2I (p.Asn2Ile) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
N2I (p.Asn2Ile) variant details
- p.Asn2Ile
- ExAC rs772861429
- TOPMed rs772861429
- gnomAD rs772861429
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0643
- REVEL 0.04
- CADD 6.51
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.0055)
- Structural context available