N4K (p.Asn4Lys) variant of RARA (Retinoic acid receptor alpha)
N4K (p.Asn4Lys) in RARA (Retinoic acid receptor alpha) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
N4K (p.Asn4Lys) variant details
- p.Asn4Lys
- rs1290843078
- gnomAD 17-40331227-C-CA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.569
- CADD 27.80
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Literature evidence available