T43Q (p.Thr43Gln) variant of ORC1 (Q13415)
T43Q (p.Thr43Gln) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
T43Q (p.Thr43Gln) variant details
- p.Thr43Gln
- rs1348599886
- gnomAD 13-40799199-TAC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.288
- CADD 29.30
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available