L41F (p.Leu41Phe) variant of OCRL (Q01968)
L41F (p.Leu41Phe) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L41F (p.Leu41Phe) variant details
- p.Leu41Phe
- gnomAD X-129544961-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.33
- MetaLR 0.78
- MetaSVM 0.33
- CADD 23.60
- PolyPhen-2 0.48
- SIFT 0.07
- Population evidence available
- Structural context available
- Literature evidence available