P13P (p.Pro13Pro) variant of MAP2K1 (Q02750)
P13P (p.Pro13Pro) in MAP2K1 (Q02750) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
P13P (p.Pro13Pro) variant details
- p.Pro13Pro
- rs876657503
- gnomAD 15-66387386-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 13.90
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available
- Cited in: A systematic approach to assessing the clinical significance of genetic variants. (PMID 24033266)