D23Y (p.Asp23Tyr) variant of ORC1 (Q13415)
D23Y (p.Asp23Tyr) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
D23Y (p.Asp23Tyr) variant details
- p.Asp23Tyr
- rs759454598
- gnomAD 13-40799092-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.88
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available