T25A (p.Thr25Ala) variant of MAP2K2 (P36507)
T25A (p.Thr25Ala) in MAP2K2 (P36507) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
T25A (p.Thr25Ala) variant details
- p.Thr25Ala
- rs1161407396
- ClinGen CA403395952
- ClinVar RCV002571923
- gnomAD rs1161407396
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.14
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.69
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available