D62N (p.Asp62Asn) variant of USH2A (Usherin)
D62N (p.Asp62Asn) in USH2A (Usherin) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
D62N (p.Asp62Asn) variant details
- p.Asp62Asn
- rs567937233
- ClinGen CA1396847
- ClinVar RCV001058100
- ClinVar RCV001099315
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.149
- REVEL 0.01
- CADD 3.12
- PolyPhen-2 0.00
- SIFT 0.30
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- Cited in: Nonsyndromic Retinitis Pigmentosa Overview. (PMID 20301590)
- Cited in: Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). (PMID 22234150)