R12P (p.Arg12Pro) variant of FH (P07954)
R12P (p.Arg12Pro) in FH (P07954) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome. 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.
R12P (p.Arg12Pro) variant details
- p.Arg12Pro
- ESP rs367826177
- ExAC rs367826177
- TOPMed rs367826177
- gnomAD rs367826177
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.53
- AlphaMissense 0.12
- MetaLR 0.90
- MetaSVM 1.07
- CADD 12.30
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available