P11L (p.Pro11Leu) variant of OCRL (Q01968)
P11L (p.Pro11Leu) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P11L (p.Pro11Leu) variant details
- p.Pro11Leu
- gnomAD rs1359386930
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.29
- MetaLR 0.60
- MetaSVM -0.17
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.26
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available