T7A (p.Thr7Ala) variant of MAP2K1 (Q02750)
T7A (p.Thr7Ala) 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, published literature, and structural context.
T7A (p.Thr7Ala) variant details
- p.Thr7Ala
- gnomAD 15-66387366-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.40
- MetaLR 0.80
- MetaSVM 0.27
- CADD 20.60
- PolyPhen-2 0.00
- SIFT 0.82
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available