S7C (p.Ser7Cys) variant of RARA (Retinoic acid receptor alpha)
S7C (p.Ser7Cys) in RARA (Retinoic acid receptor alpha) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Familial meningioma. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S7C (p.Ser7Cys) variant details
- p.Ser7Cys
- cosmic curated COSV54196
- ESP rs150291626
- ExAC rs150291626
- TOPMed rs150291626
- Uncertain significance
- Familial meningioma
- Missense
- Variant Prioritization Score for Impact Estimate 0.537
- REVEL 0.39
- CADD 23.30
- PolyPhen-2 0.17
- SIFT 0.03
- ClinVar: Uncertain significance (Familial meningioma)
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available