R3P (p.Arg3Pro) variant of FTO (Q9C0B1)
R3P (p.Arg3Pro) in FTO (Q9C0B1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
R3P (p.Arg3Pro) variant details
- p.Arg3Pro
- rs1161946063
- ClinGen CA395927468
- ClinVar RCV003679567
- TOPMed rs1161946063
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.35
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available