L38R (p.Leu38Arg) variant of RAI1 (Retinoic acid-induced protein 1)
L38R (p.Leu38Arg) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
L38R (p.Leu38Arg) variant details
- p.Leu38Arg
- ExAC rs752806351
- gnomAD rs752806351
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.37
- CADD 23.70
- PolyPhen-2 0.95
- SIFT 0.35
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available