Q34E (p.Gln34Glu) variant of OCRL (Q01968)
Q34E (p.Gln34Glu) in OCRL (Q01968) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
Q34E (p.Gln34Glu) variant details
- p.Gln34Glu
- gnomAD X-129540804-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.20
- MetaLR 0.59
- MetaSVM -0.12
- CADD 16.70
- 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