S6R (p.Ser6Arg) variant of RARA (Retinoic acid receptor alpha)
S6R (p.Ser6Arg) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
S6R (p.Ser6Arg) variant details
- p.Ser6Arg
- gnomAD 17-40331234-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.33
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.48
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available