S828F (p.Ser828Phe) variant of ORC1 (Q13415)
S828F (p.Ser828Phe) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as no classification for the single variant in the context of Meier-Gorlin syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
S828F (p.Ser828Phe) variant details
- p.Ser828Phe
- rs781559609
- ClinVar RCV001293703
- ExAC rs781559609
- gnomAD rs781559609
- no classification for the single variant
- Meier-Gorlin syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- AlphaMissense 0.11
- MetaLR 0.12
- MetaSVM -0.93
- PolyPhen-2 0.42
- SIFT 0.01
- EVE 0.63
- ClinVar: no classification for the single variant
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available