C35W (p.Cys35Trp) variant of ORC1 (Q13415)
C35W (p.Cys35Trp) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
C35W (p.Cys35Trp) variant details
- p.Cys35Trp
- gnomAD 13-40799070-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.67
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available