N2S (p.Asn2Ser) variant of USH2A (Usherin)
N2S (p.Asn2Ser) 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 0.05 / 1. The record also includes population frequency data and structural context.
N2S (p.Asn2Ser) variant details
- p.Asn2Ser
- rs772861429
- ClinGen CA1396871
- ClinVar RCV001986860
- ExAC rs772861429
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0536
- REVEL 0.04
- CADD 2.68
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available