P15S (p.Pro15Ser) variant of MAP2K1 (Q02750)
P15S (p.Pro15Ser) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
P15S (p.Pro15Ser) variant details
- p.Pro15Ser
- rs916502006
- ClinGen CA392931600
- ClinVar RCV002026456
- TOPMed rs916502006
- Uncertain significance
- RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.30
- MetaLR 0.55
- MetaSVM -0.17
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available