P13R (p.Pro13Arg) variant of MAP2K1 (Q02750)
P13R (p.Pro13Arg) in MAP2K1 (Q02750) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- gnomAD 15-66387385-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.70
- MetaLR 0.90
- MetaSVM 0.92
- CADD 26.10
- PolyPhen-2 0.70
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available