P20A (p.Pro20Ala) variant of RARA (Retinoic acid receptor alpha)
P20A (p.Pro20Ala) 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 0.50 / 1. The record also includes population frequency data and structural context.
P20A (p.Pro20Ala) variant details
- p.Pro20Ala
- rs201015843
- ClinGen CA8542241
- cosmic curated COSV54198
- ClinVar RCV004205446
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.42
- CADD 20.80
- PolyPhen-2 0.04
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00023)
- Structural context available