M75I (p.Met75Ile) variant of KCNMA1 (Q12791)
M75I (p.Met75Ile) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and published literature.
M75I (p.Met75Ile) variant details
- p.Met75Ile
- rs1464796627
- ClinGen CA377412510
- ClinVar RCV001918058
- ClinVar RCV005350727
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.08
- CADD 22.10
- PolyPhen-2 0.02
- SIFT 0.41
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome; Inborn gene)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)