V21E (p.Val21Glu) variant of RARA (Retinoic acid receptor alpha)
V21E (p.Val21Glu) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
V21E (p.Val21Glu) variant details
- p.Val21Glu
- gnomAD 17-40331280-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.53
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available