P30S (p.Pro30Ser) variant of RARA (Retinoic acid receptor alpha)
P30S (p.Pro30Ser) 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.
P30S (p.Pro30Ser) variant details
- p.Pro30Ser
- TOPMed rs1371891710
- gnomAD rs1371891710
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.30
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.53
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available