P16S (p.Pro16Ser) variant of MAP2K2 (P36507)
P16S (p.Pro16Ser) in MAP2K2 (P36507) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
P16S (p.Pro16Ser) variant details
- p.Pro16Ser
- TOPMed rs904859028
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.15
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available