S3R (p.Ser3Arg) variant of RARA (Retinoic acid receptor alpha)
S3R (p.Ser3Arg) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S3R (p.Ser3Arg) variant details
- p.Ser3Arg
- gnomAD 17-40331227-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.21
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available