R25Q (p.Arg25Gln) variant of OCRL (Q01968)
R25Q (p.Arg25Gln) in OCRL (Q01968) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
R25Q (p.Arg25Gln) variant details
- p.Arg25Gln
- ESP rs368472232
- ExAC rs368472232
- TOPMed rs368472232
- gnomAD rs368472232
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- REVEL 0.18
- MetaLR 0.64
- MetaSVM -0.00
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available