R83R (p.Arg83Arg) variant of PTPN4 (P29074)
R83R (p.Arg83Arg) in PTPN4 (P29074) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R83R (p.Arg83Arg) variant details
- p.Arg83Arg
- rs750935739
- gnomAD 2-119877325-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.422
- CADD 15.90
- Population evidence available
- Structural context available
- Literature evidence available