Y59H (p.Tyr59His) variant of RAI1 (Retinoic acid-induced protein 1)
Y59H (p.Tyr59His) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y59H (p.Tyr59His) variant details
- p.Tyr59His
- ExAC rs754090003
- gnomAD rs754090003
- Benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.46
- CADD 24.20
- PolyPhen-2 0.58
- SIFT 0.02
- ClinVar: Benign (not provided)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available