R2P (p.Arg2Pro) variant of EGFR (Epidermal growth factor receptor)
R2P (p.Arg2Pro) in EGFR (Epidermal growth factor receptor) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- Ensembl rs2128853278
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.35
- MetaLR 0.43
- MetaSVM -0.22
- CADD 23.20
- PolyPhen-2 0.07
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available