S5N (p.Ser5Asn) variant of RARA (Retinoic acid receptor alpha)
S5N (p.Ser5Asn) in RARA (Retinoic acid receptor alpha) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- NCI-TCGA Cosmic COSV9956
- cosmic curated COSV99565
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.30
- CADD 22.00
- PolyPhen-2 0.01
- SIFT 0.18
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available