P30A (p.Pro30Ala) variant of RARA (Retinoic acid receptor alpha)
P30A (p.Pro30Ala) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P30A (p.Pro30Ala) variant details
- p.Pro30Ala
- TOPMed rs1371891710
- gnomAD rs1371891710
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.31
- CADD 17.40
- PolyPhen-2 0.01
- SIFT 0.28
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.7e-05)
- Structural context available