K37I (p.Lys37Ile) variant of ORC1 (Q13415)
K37I (p.Lys37Ile) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
K37I (p.Lys37Ile) variant details
- p.Lys37Ile
- gnomAD 13-40799102-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.90
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available