M20I (p.Met20Ile) variant of OCRL (Q01968)
M20I (p.Met20Ile) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
M20I (p.Met20Ile) variant details
- p.Met20Ile
- gnomAD X-129540764-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.21
- MetaLR 0.42
- MetaSVM -0.60
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.15
- Population evidence available
- Structural context available
- Literature evidence available