P5T (p.Pro5Thr) variant of ORC1 (Q13415)
P5T (p.Pro5Thr) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- rs751757710
- gnomAD 13-40793239-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.31
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available