M34K (p.Met34Lys) variant of ORC1 (Q13415)
M34K (p.Met34Lys) in ORC1 (Q13415) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M34K (p.Met34Lys) variant details
- p.Met34Lys
- rs752415542
- gnomAD 13-40799096-CAATG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 27.70
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available