G12A (p.Gly12Ala) variant of RARA (Retinoic acid receptor alpha)
G12A (p.Gly12Ala) 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 0.55 / 1. The record also includes population frequency data and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs137929765
- ClinGen CA8542236
- ClinVar RCV004259539
- ESP rs137929765
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.553
- REVEL 0.44
- CADD 20.20
- PolyPhen-2 0.05
- SIFT 0.43
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available