S7P (p.Ser7Pro) variant of RARA (Retinoic acid receptor alpha)
S7P (p.Ser7Pro) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
S7P (p.Ser7Pro) variant details
- p.Ser7Pro
- gnomAD 17-40341423-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available