L32I (p.Leu32Ile) variant of OCRL (Q01968)
L32I (p.Leu32Ile) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L32I (p.Leu32Ile) variant details
- p.Leu32Ile
- TOPMed rs1437127217
- gnomAD rs1437127217
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.34
- MetaLR 0.84
- MetaSVM 0.47
- CADD 23.00
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available