Y39H (p.Tyr39His) variant of OCRL (Q01968)
Y39H (p.Tyr39His) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Lowe syndrome; Dent disease type 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y39H (p.Tyr39His) variant details
- p.Tyr39His
- rs756670728
- ClinGen CA10511932
- ClinVar RCV001908450
- ClinVar RCV002506965
- Conflicting interpretations
- Lowe syndrome; Dent disease type 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.28
- MetaLR 0.73
- MetaSVM -0.22
- CADD 22.50
- PolyPhen-2 0.32
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Lowe syndrome; Dent disease type 2)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00011)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Lowe Syndrome. (PMID 20301653)