G375R (p.Gly375Arg) variant of KCNMA1 (Q12791)
G375R (p.Gly375Arg) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Liang-Wang syndrome; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes published literature.
G375R (p.Gly375Arg) variant details
- p.Gly375Arg
- rs1554829003
- ClinGen CA377409002
- NCI-TCGA Cosmic COSV9969
- cosmic curated COSV99695
- Pathogenic/Likely pathogenic
- Liang-Wang syndrome; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- AlphaMissense 1.00
- MetaLR 0.44
- MetaSVM -0.18
- PolyPhen-2 1.00
- SIFT 0.02
- EVE 0.90
- ClinVar: Pathogenic/Likely pathogenic (Liang-Wang syndrome; Inborn genetic diseases; not provided)
- EBI: Pathogenic (in LIWAS)
- UniProt: Pathogenic (in LIWAS)
- Cited in: De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum… (PMID 31152168)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)