Q34Q (p.Gln34Gln) variant of OCRL (Q01968)
Q34Q (p.Gln34Gln) in OCRL (Q01968) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
Q34Q (p.Gln34Gln) variant details
- p.Gln34Gln
- gnomAD X-129540806-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 11.30
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available