Q54R (p.Gln54Arg) variant of RAI1 (Retinoic acid-induced protein 1)
Q54R (p.Gln54Arg) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- gnomAD 17-17793109-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.28
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available