T25I (p.Thr25Ile) variant of MAP2K2 (P36507)
T25I (p.Thr25Ile) in MAP2K2 (P36507) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T25I (p.Thr25Ile) variant details
- p.Thr25Ile
- Ensembl rs2145089782
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.15
- AlphaMissense 0.07
- MetaLR 0.16
- MetaSVM -0.91
- CADD 23.20
- PolyPhen-2 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available