p.Leu46 Lys48del variant of RAI1 (Retinoic acid-induced protein 1)

Name: RAI1 p.Leu46 Lys48del variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-10-09
License: https://catvariant.com/terms-of-use

p.Leu46 Lys48del in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.

p.Leu46 Lys48del variant details

rs1402735523
gnomAD 17-17793082-TGCTC
Inframe Deletion
Variant Prioritization Score for Impact Estimate 0.491
CADD 19.50
Most common in the Non-Finnish European population (allele frequency 1.5e-05)
Structural context available
Literature evidence available