Y59F (p.Tyr59Phe) variant of RAI1 (Retinoic acid-induced protein 1)
Y59F (p.Tyr59Phe) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y59F (p.Tyr59Phe) variant details
- p.Tyr59Phe
- gnomAD rs1240460489
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.17
- CADD 20.60
- PolyPhen-2 0.01
- SIFT 0.03
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available