S60L (p.Ser60Leu) variant of KCNMA1 (Q12791)
S60L (p.Ser60Leu) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskinesia syndrome; no. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and published literature.
S60L (p.Ser60Leu) variant details
- p.Ser60Leu
- rs768769748
- ClinGen CA5568790
- ClinVar RCV001906338
- ClinVar RCV002246584
- Conflicting interpretations
- Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskinesia syndrome; no
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.03
- CADD 23.00
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Generalized epilepsy-paroxysmal dyskine)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 3e-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)