A66S (p.Ala66Ser) variant of ORC1 (Q13415)
A66S (p.Ala66Ser) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
A66S (p.Ala66Ser) variant details
- p.Ala66Ser
- gnomAD 13-40799209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.59
- CADD 23.30
- PolyPhen-2 0.58
- SIFT 0.12
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available