P30R (p.Pro30Arg) variant of RARA (Retinoic acid receptor alpha)
P30R (p.Pro30Arg) in RARA (Retinoic acid receptor alpha) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
P30R (p.Pro30Arg) variant details
- p.Pro30Arg
- rs750435578
- gnomAD 17-40341481-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 11.30
- Most common in the South Asian population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available