G64R (p.Gly64Arg) variant of RAI1 (Retinoic acid-induced protein 1)
G64R (p.Gly64Arg) 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 0.16 / 1. The record also includes population frequency data and structural context.
G64R (p.Gly64Arg) variant details
- p.Gly64Arg
- rs779697086
- ClinGen CA8418069
- ClinVar RCV003007539
- ExAC rs779697086
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.41
- CADD 16.10
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available