V36L (p.Val36Leu) variant of ORC1 (Q13415)
V36L (p.Val36Leu) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
V36L (p.Val36Leu) variant details
- p.Val36Leu
- rs1881774568
- gnomAD 13-40799104-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.77
- CADD 25.00
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available