S94A (p.Ser94Ala) variant of KCNMA1 (Q12791)
S94A (p.Ser94Ala) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autism spectrum disorder. The record also includes published literature.
S94A (p.Ser94Ala) variant details
- p.Ser94Ala
- rs2552275312
- ClinGen CA377412383
- ClinVar RCV003127239
- Uncertain significance
- Autism spectrum disorder
- Missense
- ClinVar: Uncertain significance (Autism spectrum disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)