P20L (p.Pro20Leu) variant of RARA (Retinoic acid receptor alpha)
P20L (p.Pro20Leu) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
P20L (p.Pro20Leu) variant details
- p.Pro20Leu
- Ensembl rs773378786
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.61
- CADD 23.40
- PolyPhen-2 0.13
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available