S58I (p.Ser58Ile) variant of RAI1 (Retinoic acid-induced protein 1)
S58I (p.Ser58Ile) 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 0.22 / 1. The record also includes population frequency data and structural context.
S58I (p.Ser58Ile) variant details
- p.Ser58Ile
- cosmic curated COSV55396
- TOPMed rs1488017236
- gnomAD rs1488017236
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.09
- ESM-1b 0.41
- AlphaMissense 0.17
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.00
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available