S3I (p.Ser3Ile) variant of RARA (Retinoic acid receptor alpha)
S3I (p.Ser3Ile) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S3I (p.Ser3Ile) variant details
- p.Ser3Ile
- gnomAD 17-40331226-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.38
- CADD 24.30
- PolyPhen-2 0.28
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available