E98V (p.Glu98Val) variant of MYH7 (Myosin-7)
E98V (p.Glu98Val) in MYH7 (Myosin-7) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes structural context.
E98V (p.Glu98Val) variant details
- p.Glu98Val
- rs727503279
- ClinGen CA013219
- ClinVar RCV000151315
- Ensembl rs727503279
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.887
- AlphaMissense 0.99
- MetaLR 0.87
- MetaSVM 0.98
- PolyPhen-2 0.74
- SIFT 0.00
- EVE 0.93
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available