M34V (p.Met34Val) variant of ORC1 (Q13415)
M34V (p.Met34Val) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
M34V (p.Met34Val) variant details
- p.Met34Val
- rs1881774173
- gnomAD 13-40799098-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.20
- CADD 8.98
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available