L24F (p.Leu24Phe) variant of OCRL (Q01968)
L24F (p.Leu24Phe) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L24F (p.Leu24Phe) variant details
- p.Leu24Phe
- TOPMed rs1280365548
- gnomAD rs1280365548
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.18
- MetaLR 0.54
- MetaSVM -0.55
- CADD 15.20
- PolyPhen-2 0.01
- SIFT 0.63
- Most common in the Latino/Admixed American population (allele frequency 9.4e-05)
- Structural context available