I33L (p.Ile33Leu) variant of PTPN4 (P29074)
I33L (p.Ile33Leu) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
I33L (p.Ile33Leu) variant details
- p.Ile33Leu
- gnomAD 2-119809950-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- REVEL 0.40
- ESM-1b 1.00
- AlphaMissense 0.26
- MetaLR 0.36
- MetaSVM -0.48
- CADD 20.60
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available