S15C (p.Ser15Cys) variant of ORC1 (Q13415)
S15C (p.Ser15Cys) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S15C (p.Ser15Cys) variant details
- p.Ser15Cys
- rs1881570937
- gnomAD 13-40793234-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.22
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.22
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Literature evidence available