S5R (p.Ser5Arg) variant of RARA (Retinoic acid receptor alpha)
S5R (p.Ser5Arg) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
S5R (p.Ser5Arg) variant details
- p.Ser5Arg
- cosmic curated COSV54198
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.27
- CADD 19.30
- PolyPhen-2 0.07
- SIFT 0.10
- Population evidence available
- Structural context available