L32del (p.Leu32del) variant of RARA (Retinoic acid receptor alpha)
L32del (p.Leu32del) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L32del (p.Leu32del) variant details
- gnomAD 17-40331309-ATGC-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.436
- CADD 19.70
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Literature evidence available