M95L (p.Met95Leu) variant of KCNMA1 (Q12791)
M95L (p.Met95Leu) in KCNMA1 (Q12791) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data.
M95L (p.Met95Leu) variant details
- p.Met95Leu
- ExAC rs762347754
- TOPMed rs762347754
- gnomAD rs762347754
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.16
- AlphaMissense 0.59
- MetaLR 0.06
- MetaSVM -1.10
- CADD 19.70
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)