S41F (p.Ser41Phe) variant of KCNMA1 (Q12791)
S41F (p.Ser41Phe) 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; Ce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
S41F (p.Ser41Phe) variant details
- p.Ser41Phe
- rs766759815
- ClinGen CA5568805
- ClinVar RCV001060049
- ClinVar RCV001291789
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome; Inborn genetic diseases; Ce
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.35
- CADD 28.30
- PolyPhen-2 0.83
- SIFT 0.00
- 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 0.00039)
- 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)