A2S (p.Ala2Ser) variant of RARA (Retinoic acid receptor alpha)
A2S (p.Ala2Ser) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
A2S (p.Ala2Ser) variant details
- p.Ala2Ser
- gnomAD 17-40331222-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.29
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available