K37E (p.Lys37Glu) variant of ORC1 (Q13415)
K37E (p.Lys37Glu) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
K37E (p.Lys37Glu) variant details
- p.Lys37Glu
- rs762809317
- gnomAD 13-40799101-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.787
- REVEL 0.90
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available