A32T (p.Ala32Thr) variant of RRAD (GTP-binding protein RAD)
A32T (p.Ala32Thr) 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 0.26 / 1. The record also includes population frequency data and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- TOPMed rs1001060859
- gnomAD rs1001060859
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.38
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00087)
- Structural context available