M34R (p.Met34Arg) variant of ORC1 (Q13415)
M34R (p.Met34Arg) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
M34R (p.Met34Arg) variant details
- p.Met34Arg
- rs199737843
- gnomAD 13-40799099-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.50
- CADD 23.10
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available