T2A (p.Thr2Ala) variant of PTPN4 (P29074)
T2A (p.Thr2Ala) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T2A (p.Thr2Ala) variant details
- p.Thr2Ala
- gnomAD 2-119809857-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.37
- MetaSVM -0.54
- CADD 24.40
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available