P55A (p.Pro55Ala) variant of RAI1 (Retinoic acid-induced protein 1)
P55A (p.Pro55Ala) in RAI1 (Retinoic acid-induced protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
P55A (p.Pro55Ala) variant details
- p.Pro55Ala
- ExAC rs764349627
- gnomAD rs764349627
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.00
- PolyPhen-2 0.03
- SIFT 0.33
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available