D54N (p.Asp54Asn) variant of OCRL (Q01968)
D54N (p.Asp54Asn) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
D54N (p.Asp54Asn) variant details
- p.Asp54Asn
- gnomAD X-129544998-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.31
- MetaLR 0.82
- MetaSVM 0.71
- CADD 24.80
- PolyPhen-2 0.73
- SIFT 0.25
- Population evidence available
- Structural context available
- Literature evidence available