G122A (p.Gly122Ala) variant of KCNMA1 (Q12791)
G122A (p.Gly122Ala) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cerebellar atrophy, developmental delay, and seizures; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and published literature.
G122A (p.Gly122Ala) variant details
- p.Gly122Ala
- rs199568153
- ClinGen CA5568761
- ClinVar RCV001303799
- ClinVar RCV001732119
- Uncertain significance
- Cerebellar atrophy, developmental delay, and seizures; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.09
- CADD 20.60
- PolyPhen-2 0.03
- SIFT 0.92
- ClinVar: Uncertain significance (Cerebellar atrophy, developmental delay, and seizures; Inborn ge)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)