T52I (p.Thr52Ile) variant of RRAD (GTP-binding protein RAD)
T52I (p.Thr52Ile) 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 0.22 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- rs1962976216
- ClinGen CA396245291
- ClinVar RCV004147513
- TOPMed rs1962976216
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1e-06)
- Structural context available