N15S (p.Asn15Ser) variant of MAP2K2 (P36507)
N15S (p.Asn15Ser) 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 0.26 / 1. The record also includes population frequency data and structural context.
N15S (p.Asn15Ser) variant details
- p.Asn15Ser
- TOPMed rs1408360787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.12
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.38
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.9e-05)
- Structural context available