N2D (p.Asn2Asp) variant of USH2A (Usherin)
N2D (p.Asn2Asp) in USH2A (Usherin) is a missense change. 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.
N2D (p.Asn2Asp) variant details
- p.Asn2Asp
- Ensembl rs2039693688
- Missense
- Variant Prioritization Score for Impact Estimate 0.0529
- REVEL 0.04
- CADD 1.06
- PolyPhen-2 0.00
- SIFT 0.26
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available