S78T (p.Ser78Thr) variant of PTPN4 (P29074)
S78T (p.Ser78Thr) in PTPN4 (P29074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
S78T (p.Ser78Thr) variant details
- p.Ser78Thr
- gnomAD 2-119862629-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.30
- MetaSVM -0.71
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available