D58H (p.Asp58His) variant of ORC1 (Q13415)
D58H (p.Asp58His) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
D58H (p.Asp58His) variant details
- p.Asp58His
- rs1566121276
- gnomAD 13-40799125-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.13
- CADD 13.30
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available