P8R (p.Pro8Arg) variant of PTPN4 (P29074)
P8R (p.Pro8Arg) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P8R (p.Pro8Arg) variant details
- p.Pro8Arg
- gnomAD 2-119809876-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.42
- ESM-1b 0.00
- AlphaMissense 0.43
- MetaLR 0.55
- MetaSVM -0.00
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available