A2P (p.Ala2Pro) variant of ORC1 (Q13415)
A2P (p.Ala2Pro) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A2P (p.Ala2Pro) variant details
- p.Ala2Pro
- rs781526529
- gnomAD 13-40793242-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.38
- CADD 23.30
- PolyPhen-2 0.77
- SIFT 0.11
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available