N42K (p.Asn42Lys) variant of USH2A (Usherin)
N42K (p.Asn42Lys) in USH2A (Usherin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cone-rod dystrophy 3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N42K (p.Asn42Lys) variant details
- p.Asn42Lys
- rs774473277
- ClinGen CA344904929
- ClinVar RCV002272769
- ExAC rs774473277
- Uncertain significance
- Cone-rod dystrophy 3
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.27
- CADD 3.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Cone-rod dystrophy 3)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available