L32M (p.Leu32Met) variant of RARA (Retinoic acid receptor alpha)
L32M (p.Leu32Met) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L32M (p.Leu32Met) variant details
- p.Leu32Met
- ExAC rs775872347
- TOPMed rs775872347
- gnomAD rs775872347
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.38
- CADD 16.90
- PolyPhen-2 0.42
- SIFT 0.08
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available