N62D (p.Asn62Asp) variant of ORC1 (Q13415)
N62D (p.Asn62Asp) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
N62D (p.Asn62Asp) variant details
- p.Asn62Asp
- rs1298151723
- gnomAD 13-40799221-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.645
- REVEL 0.66
- CADD 25.30
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available