R22L (p.Arg22Leu) variant of PTPN4 (P29074)
R22L (p.Arg22Leu) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- gnomAD 2-119809918-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.697
- REVEL 0.63
- ESM-1b 1.00
- AlphaMissense 0.32
- MetaLR 0.59
- MetaSVM 0.20
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available