A13A (p.Ala13Ala) variant of OCRL (Q01968)
A13A (p.Ala13Ala) in OCRL (Q01968) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A13A (p.Ala13Ala) variant details
- p.Ala13Ala
- rs934756915
- gnomAD X-129540478-C-G
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.111
- CADD 4.22
- Most common in the Ashkenazi Jewish population (allele frequency 5.6e-05)
- Structural context available
- Literature evidence available