E81K (p.Glu81Lys) variant of MAPK1 (P28482)
E81K (p.Glu81Lys) in MAPK1 (P28482) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Noonan syndrome 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes experimental measurements and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- rs2145705605
- ClinGen CA410867446
- NCI-TCGA Cosmic COSV5318
- cosmic curated COSV53187
- Uncertain significance
- Noonan syndrome 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- AlphaMissense 0.97
- MetaLR 0.18
- MetaSVM -0.75
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.64
- ClinVar: Uncertain significance (Noonan syndrome 13)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- MAPK1 VRT-11E: score 5.9