S5G (p.Ser5Gly) variant of RARA (Retinoic acid receptor alpha)
S5G (p.Ser5Gly) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S5G (p.Ser5Gly) variant details
- p.Ser5Gly
- gnomAD 17-40331231-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.32
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available