P13S (p.Pro13Ser) variant of MAP2K1 (Q02750)
P13S (p.Pro13Ser) in MAP2K1 (Q02750) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; RASopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P13S (p.Pro13Ser) variant details
- p.Pro13Ser
- rs2545000729
- ClinGen CA392931578
- ClinVar RCV003154131
- ClinVar RCV005100923
- Uncertain significance
- not provided; RASopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.50
- MetaLR 0.81
- MetaSVM 0.51
- CADD 22.50
- PolyPhen-2 0.22
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; RASopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available