N2K (p.Asn2Lys) variant of USH2A (Usherin)
N2K (p.Asn2Lys) in USH2A (Usherin) is a missense change. 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.
N2K (p.Asn2Lys) variant details
- p.Asn2Lys
- TOPMed rs950281688
- gnomAD rs950281688
- Missense
- Variant Prioritization Score for Impact Estimate 0.0596
- REVEL 0.06
- CADD 1.82
- PolyPhen-2 0.04
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 0.0054)
- Structural context available