P6Q (p.Pro6Gln) variant of OCRL (Q01968)
P6Q (p.Pro6Gln) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- gnomAD X-129540456-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.29
- MetaLR 0.66
- MetaSVM 0.13
- CADD 25.00
- PolyPhen-2 0.15
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available