A25T (p.Ala25Thr) variant of RARA (Retinoic acid receptor alpha)
A25T (p.Ala25Thr) 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 0.50 / 1. The record also includes population frequency data and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- rs371882393
- NCI-TCGA Cosmic COSV1043
- cosmic curated COSV10439
- 1000Genomes rs371882393
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.34
- CADD 23.60
- PolyPhen-2 0.04
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.0003)
- Structural context available