H62R (p.His62Arg) variant of FTO (Q9C0B1)
H62R (p.His62Arg) 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; Lethal polymalformative syndrome, Boissel type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H62R (p.His62Arg) variant details
- p.His62Arg
- rs550932456
- ClinGen CA8058327
- ClinVar RCV001866848
- ClinVar RCV003136206
- Uncertain significance
- not provided; Lethal polymalformative syndrome, Boissel type
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- REVEL 0.87
- CADD 23.60
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (not provided; Lethal polymalformative syndrome, Boissel type)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available