R6L (p.Arg6Leu) variant of PTPN4 (P29074)
R6L (p.Arg6Leu) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
R6L (p.Arg6Leu) variant details
- p.Arg6Leu
- gnomAD 2-119809870-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.32
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.48
- MetaSVM -0.37
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available