S58L (p.Ser58Leu) variant of KCNMA1 (Q12791)
S58L (p.Ser58Leu) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
S58L (p.Ser58Leu) variant details
- p.Ser58Leu
- rs776719617
- ClinGen CA5568791
- ClinVar RCV001214218
- ClinVar RCV005348358
- Uncertain significance
- Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.09
- CADD 26.80
- PolyPhen-2 0.78
- SIFT 0.02
- ClinVar: Uncertain significance (Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskine)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00014)
- 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)