V21M (p.Val21Met) variant of RARA (Retinoic acid receptor alpha)
V21M (p.Val21Met) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
V21M (p.Val21Met) variant details
- p.Val21Met
- gnomAD 17-40331279-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.28
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available