V53A (p.Val53Ala) variant of ORC1 (Q13415)
V53A (p.Val53Ala) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
V53A (p.Val53Ala) variant details
- p.Val53Ala
- rs1881780968
- gnomAD 13-40799174-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- REVEL 0.37
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.53
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Literature evidence available