A33S (p.Ala33Ser) variant of OCRL (Q01968)
A33S (p.Ala33Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A33S (p.Ala33Ser) variant details
- p.Ala33Ser
- ExAC rs763610437
- TOPMed rs763610437
- gnomAD rs763610437
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.17
- MetaLR 0.62
- MetaSVM -0.21
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.87
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available