N17S (p.Asn17Ser) variant of RARA (Retinoic acid receptor alpha)
N17S (p.Asn17Ser) in RARA (Retinoic acid receptor alpha) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
N17S (p.Asn17Ser) variant details
- p.Asn17Ser
- rs368040095
- ClinGen CA8542240
- ClinVar RCV004339263
- ESP rs368040095
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.23
- CADD 15.50
- PolyPhen-2 0.04
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00028)
- Structural context available