L7F (p.Leu7Phe) variant of PTPN4 (P29074)
L7F (p.Leu7Phe) 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 and structural context.
L7F (p.Leu7Phe) variant details
- p.Leu7Phe
- ExAC rs778359993
- gnomAD rs778359993
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.63
- MetaSVM 0.16
- CADD 33.00
- Most common in the Latino/Admixed American population (allele frequency 6.8e-05)
- Structural context available