P13Q (p.Pro13Gln) variant of MAP2K1 (Q02750)
P13Q (p.Pro13Gln) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
P13Q (p.Pro13Gln) variant details
- p.Pro13Gln
- Ensembl rs868181833
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.55
- MetaLR 0.83
- MetaSVM 0.78
- CADD 23.80
- PolyPhen-2 0.12
- SIFT 0.04
- Population evidence available
- Structural context available