H15Q (p.His15Gln) variant of RARA (Retinoic acid receptor alpha)
H15Q (p.His15Gln) in RARA (Retinoic acid receptor alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H15Q (p.His15Gln) variant details
- p.His15Gln
- gnomAD 17-40341430-GAC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.228
- CADD 16.00
- Most common in the East Asian population (allele frequency 3.2e-05)
- Structural context available
- Literature evidence available