T7M (p.Thr7Met) variant of MAP2K1 (Q02750)
T7M (p.Thr7Met) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T7M (p.Thr7Met) variant details
- p.Thr7Met
- gnomAD rs2093343951
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.35
- MetaLR 0.76
- MetaSVM 0.33
- CADD 22.50
- PolyPhen-2 0.10
- SIFT 0.14
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available