P11Q (p.Pro11Gln) variant of OCRL (Q01968)
P11Q (p.Pro11Gln) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
P11Q (p.Pro11Gln) variant details
- p.Pro11Gln
- gnomAD rs1359386930
- Missense
- Variant Prioritization Score for Impact Estimate 0.451
- REVEL 0.31
- MetaLR 0.60
- MetaSVM -0.18
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.57
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available