K67R (p.Lys67Arg) variant of ORC1 (Q13415)
K67R (p.Lys67Arg) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
K67R (p.Lys67Arg) variant details
- p.Lys67Arg
- rs746560103
- gnomAD 13-40799159-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.23
- CADD 19.80
- PolyPhen-2 0.03
- SIFT 0.27
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available