T25N (p.Thr25Asn) variant of MAP2K2 (P36507)
T25N (p.Thr25Asn) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
T25N (p.Thr25Asn) variant details
- p.Thr25Asn
- rs2145089782
- ClinGen CA403395950
- ClinVar RCV001757075
- Ensembl rs2145089782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.17
- AlphaMissense 0.10
- MetaLR 0.20
- MetaSVM -0.74
- CADD 22.50
- PolyPhen-2 0.36
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available