P72R (p.Pro72Arg) variant of KCNMA1 (Q12791)
P72R (p.Pro72Arg) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Generalized epilepsy-paroxysmal dyskinesia syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1.
P72R (p.Pro72Arg) variant details
- p.Pro72Arg
- rs2093876319
- ClinGen CA377412531
- ClinVar RCV001217379
- Ensembl rs2093876319
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- AlphaMissense 0.92
- MetaLR 0.14
- MetaSVM -1.01
- PolyPhen-2 0.97
- SIFT 0.16
- MutPred 0.48
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance