K130R (p.Lys130Arg) variant of KCNMA1 (Q12791)
K130R (p.Lys130Arg) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data.
K130R (p.Lys130Arg) variant details
- p.Lys130Arg
- rs138918358
- ClinGen CA5568710
- ClinVar RCV003861468
- ClinVar RCV004767499
- Uncertain significance
- Generalized epilepsy-paroxysmal dyskinesia syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.06
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.47
- ClinVar: Uncertain significance (Generalized epilepsy-paroxysmal dyskinesia syndrome; not provide)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)