P30T (p.Pro30Thr) variant of RARA (Retinoic acid receptor alpha)
P30T (p.Pro30Thr) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P30T (p.Pro30Thr) variant details
- p.Pro30Thr
- TOPMed rs1371891710
- gnomAD rs1371891710
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.31
- CADD 18.90
- PolyPhen-2 0.03
- SIFT 0.12
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available