P55S (p.Pro55Ser) variant of RAI1 (Retinoic acid-induced protein 1)
P55S (p.Pro55Ser) in RAI1 (Retinoic acid-induced protein 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. 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.
P55S (p.Pro55Ser) variant details
- p.Pro55Ser
- rs764349627
- NCI-TCGA Cosmic COSV9988
- cosmic curated COSV99885
- ExAC rs764349627
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 16.60
- PolyPhen-2 0.02
- SIFT 0.25
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available