D58N (p.Asp58Asn) variant of ORC1 (Q13415)
D58N (p.Asp58Asn) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
D58N (p.Asp58Asn) variant details
- p.Asp58Asn
- rs539373322
- gnomAD 13-40799146-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.31
- CADD 21.50
- PolyPhen-2 0.05
- SIFT 0.16
- Most common in the African/African-American population (allele frequency 0.00021)
- Structural context available
- Literature evidence available