S6I (p.Ser6Ile) variant of RARA (Retinoic acid receptor alpha)
S6I (p.Ser6Ile) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S6I (p.Ser6Ile) variant details
- p.Ser6Ile
- gnomAD 17-40331235-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.38
- CADD 22.60
- PolyPhen-2 0.14
- SIFT 0.15
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available