S36F (p.Ser36Phe) variant of RARA (Retinoic acid receptor alpha)
S36F (p.Ser36Phe) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
S36F (p.Ser36Phe) variant details
- p.Ser36Phe
- gnomAD 17-40331325-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.60
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.08
- Population evidence available
- Structural context available
- Literature evidence available