R37S (p.Arg37Ser) variant of RRAD (GTP-binding protein RAD)
R37S (p.Arg37Ser) in RRAD (GTP-binding protein RAD) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R37S (p.Arg37Ser) variant details
- p.Arg37Ser
- TOPMed rs1962977410
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.90
- CADD 23.70
- PolyPhen-2 0.30
- SIFT 0.10
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available