C79W (p.Cys79Trp) variant of KCNMA1 (Q12791)
C79W (p.Cys79Trp) in KCNMA1 (Q12791) 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 0.36 / 1.
C79W (p.Cys79Trp) variant details
- p.Cys79Trp
- rs2154572129
- ClinGen CA377412480
- ClinVar RCV001755015
- Ensembl rs2154572129
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 1.00
- MetaLR 0.18
- MetaSVM -0.94
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance