E16K (p.Glu16Lys) variant of OCRL (Q01968)
E16K (p.Glu16Lys) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
E16K (p.Glu16Lys) variant details
- p.Glu16Lys
- gnomAD X-129540750-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.23
- MetaLR 0.61
- MetaSVM -0.29
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available