V29E (p.Val29Glu) variant of PTPN4 (P29074)
V29E (p.Val29Glu) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
V29E (p.Val29Glu) variant details
- p.Val29Glu
- gnomAD 2-119809939-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.88
- ESM-1b 1.00
- AlphaMissense 0.57
- MetaLR 0.66
- MetaSVM 0.43
- CADD 26.10
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available