Q54P (p.Gln54Pro) variant of RAI1 (Retinoic acid-induced protein 1)
Q54P (p.Gln54Pro) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q54P (p.Gln54Pro) variant details
- p.Gln54Pro
- rs753174507
- ClinGen CA8418061
- ClinVar RCV003016244
- ExAC rs753174507
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 23.70
- PolyPhen-2 0.63
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available