S21N (p.Ser21Asn) variant of KCNMA1 (Q12791)
S21N (p.Ser21Asn) 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; not provided; Generalized epilepsy-paroxysmal dyskinesi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and published literature.
S21N (p.Ser21Asn) variant details
- p.Ser21Asn
- rs794726902
- ClinGen CA238735
- cosmic curated COSV54252
- ClinVar RCV000173274
- Uncertain significance
- Inborn genetic diseases; not provided; Generalized epilepsy-paroxysmal dyskinesi
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.20
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Generalized epilepsy-paro)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- 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)