D23V (p.Asp23Val) variant of ORC1 (Q13415)
D23V (p.Asp23Val) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
D23V (p.Asp23Val) variant details
- p.Asp23Val
- gnomAD 13-40799093-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- REVEL 0.92
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available