V29M (p.Val29Met) variant of PTPN4 (P29074)
V29M (p.Val29Met) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- gnomAD 2-119809938-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.49
- ESM-1b 1.00
- AlphaMissense 0.16
- MetaLR 0.58
- MetaSVM -0.06
- CADD 26.30
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available