M56V (p.Met56Val) variant of KCNE2 (Q9Y6J6)
M56V (p.Met56Val) in KCNE2 (Q9Y6J6) is a missense change. The available record places it in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
M56V (p.Met56Val) variant details
- p.Met56Val
- rs199473649
- ClinGen CA218802
- ClinVar RCV000058361
- TOPMed rs199473649
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.71
- MetaSVM 0.56
- PolyPhen-2 0.99
- SIFT 0.26
- ClinVar: not provided (not provided)
- UniProt: Not provided
- Population evidence available
- Structural context available