L41S (p.Leu41Ser) variant of OCRL (Q01968)
L41S (p.Leu41Ser) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
L41S (p.Leu41Ser) variant details
- p.Leu41Ser
- gnomAD X-129544960-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.676
- REVEL 0.70
- MetaLR 0.84
- MetaSVM 0.66
- CADD 25.60
- PolyPhen-2 0.94
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available