N17T (p.Asn17Thr) variant of RARA (Retinoic acid receptor alpha)
N17T (p.Asn17Thr) in RARA (Retinoic acid receptor alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
N17T (p.Asn17Thr) variant details
- p.Asn17Thr
- gnomAD 17-40341469-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 8.02
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available
- Literature evidence available