S6N (p.Ser6Asn) variant of RARA (Retinoic acid receptor alpha)
S6N (p.Ser6Asn) 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 and structural context.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- TOPMed rs1173565250
- gnomAD rs1173565250
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.25
- CADD 19.80
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available