G10C (p.Gly10Cys) variant of KCNMA1 (Q12791)
G10C (p.Gly10Cys) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and published literature.
G10C (p.Gly10Cys) variant details
- p.Gly10Cys
- rs776683537
- ClinGen CA377412914
- ClinVar RCV002840281
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- CADD 20.60
- PolyPhen-2 0.15
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)