A861P (p.Ala861Pro) variant of OCRL (Q01968)
A861P (p.Ala861Pro) 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 0.63 / 1. The record also includes published literature and structural context.
A861P (p.Ala861Pro) variant details
- p.Ala861Pro
- rs2124430527
- ClinGen CA414632664
- ClinVar RCV002040470
- Ensembl rs2124430527
- Likely pathogenic
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.63
- AlphaMissense 0.99
- MetaLR 0.54
- MetaSVM 0.25
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.91
- ClinVar: Likely pathogenic (Lowe syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)