H51Q (p.His51Gln) variant of OCRL (Q01968)
H51Q (p.His51Gln) in OCRL (Q01968) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Lowe syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
H51Q (p.His51Gln) variant details
- p.His51Gln
- rs1392543051
- ClinGen CA414550550
- ClinVar RCV001998315
- gnomAD rs1392543051
- Uncertain significance
- Lowe syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.20
- MetaLR 0.55
- MetaSVM -0.50
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Lowe syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Lowe Syndrome. (PMID 20301653)