P5S (p.Pro5Ser) variant of ORC1 (Q13415)
P5S (p.Pro5Ser) in ORC1 (Q13415) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs751757710
- gnomAD 13-40793239-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.24
- CADD 18.30
- PolyPhen-2 0.30
- SIFT 0.09
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available