H51R (p.His51Arg) variant of OCRL (Q01968)
H51R (p.His51Arg) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Lowe syndrome; Dent disease type 2; Intellectual disability. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H51R (p.His51Arg) variant details
- p.His51Arg
- rs764804719
- ClinGen CA10511956
- ClinVar RCV001702160
- ClinVar RCV001727973
- Benign/Likely benign
- Lowe syndrome; Dent disease type 2; Intellectual disability
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.16
- MetaLR 0.54
- MetaSVM -0.50
- CADD 11.60
- PolyPhen-2 0.00
- SIFT 0.49
- ClinVar: Benign/Likely benign (Lowe syndrome; Dent disease type 2; Intellectual disability)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:BEB population (allele frequency 0.013)
- Structural context available
- Cited in: Dent Disease. (PMID 22876375)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)