V53M (p.Val53Met) variant of ORC1 (Q13415)
V53M (p.Val53Met) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
V53M (p.Val53Met) variant details
- p.Val53Met
- rs1310621949
- gnomAD 13-40799173-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.09
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available