K78E (p.Lys78Glu) variant of MYH11 (Myosin-11)
K78E (p.Lys78Glu) in MYH11 (Myosin-11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes structural context.
K78E (p.Lys78Glu) variant details
- p.Lys78Glu
- rs2151381334
- ClinGen CA395198386
- ClinVar RCV001703082
- Ensembl rs2151381334
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- AlphaMissense 0.85
- MetaLR 0.40
- MetaSVM -0.29
- PolyPhen-2 0.95
- SIFT 0.00
- MutPred 0.38
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available