E16Q (p.Glu16Gln) variant of OCRL (Q01968)
E16Q (p.Glu16Gln) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E16Q (p.Glu16Gln) variant details
- p.Glu16Gln
- Ensembl rs1935785100
- Missense
- Variant Prioritization Score for Impact Estimate 0.324
- REVEL 0.22
- MetaLR 0.57
- MetaSVM -0.55
- CADD 22.40
- PolyPhen-2 0.00
- SIFT 0.19
- Most common in the East Asian population (allele frequency 0.00026)
- Structural context available