L622P (p.Leu622Pro) variant of ORC1 (Q13415)
L622P (p.Leu622Pro) in ORC1 (Q13415) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Meier-Gorlin syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes structural context.
L622P (p.Leu622Pro) variant details
- p.Leu622Pro
- rs2147923128
- ClinGen CA340351916
- ClinVar RCV001527357
- Ensembl rs2147923128
- Pathogenic
- Meier-Gorlin syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 0.99
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Pathogenic (Meier-Gorlin syndrome 1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available