R4H (p.Arg4His) variant of PTPN4 (P29074)
R4H (p.Arg4His) in PTPN4 (P29074) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
R4H (p.Arg4His) variant details
- p.Arg4His
- rs748499258
- NCI-TCGA Cosmic COSV9974
- ExAC rs748499258
- gnomAD rs748499258
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.54
- ESM-1b 1.00
- AlphaMissense 0.15
- MetaLR 0.69
- MetaSVM 0.42
- CADD 26.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available