P863L (p.Pro863Leu) variant of KCNMA1 (Q12791)
P863L (p.Pro863Leu) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of KCNMA1-related disorder; Liang-Wang syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and published literature.
P863L (p.Pro863Leu) variant details
- p.Pro863Leu
- rs150678882
- ClinGen CA210083382
- cosmic curated COSV54263
- ClinVar RCV001252026
- Pathogenic/Likely pathogenic
- KCNMA1-related disorder; Liang-Wang syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.62
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (KCNMA1-related disorder; Liang-Wang syndrome; not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Cited in: Evidence report: Genetic and metabolic testing on children with global developmental delay [RETIRED]: report of the… (PMID 21956720)
- Cited in: Comprehensive evaluation of the child with intellectual disability or global developmental delays. (PMID 25157020)