P6Q (p.Pro6Gln) variant of MAP2K1 (Q02750)
P6Q (p.Pro6Gln) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P6Q (p.Pro6Gln) variant details
- p.Pro6Gln
- gnomAD 15-66387364-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.54
- MetaLR 0.82
- MetaSVM 0.72
- CADD 26.10
- PolyPhen-2 0.98
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available