P57Q (p.Pro57Gln) variant of RAI1 (Retinoic acid-induced protein 1)
P57Q (p.Pro57Gln) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
P57Q (p.Pro57Gln) variant details
- p.Pro57Gln
- TOPMed rs1229553889
- gnomAD rs1229553889
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.20
- PolyPhen-2 0.02
- SIFT 0.25
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available