M1L (p.Met1Leu) variant of KCNMA1 (Q12791)
M1L (p.Met1Leu) 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.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs1232656132
- ClinGen CA377412971
- ClinVar RCV003318990
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- MetaLR 0.31
- MetaSVM -0.80
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 0.83
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance