G275A (p.Gly275Ala) variant of OCRL (Q01968)
G275A (p.Gly275Ala) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes published literature and structural context.
G275A (p.Gly275Ala) variant details
- p.Gly275Ala
- rs1602783564
- ClinGen CA414552146
- ClinVar RCV001029771
- Ensembl rs1602783564
- Likely pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.811
- AlphaMissense 0.43
- MetaLR 0.94
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.71
- ClinVar: Likely pathogenic (Lowe syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)