V61A (p.Val61Ala) variant of KCNMA1 (Q12791)
V61A (p.Val61Ala) in KCNMA1 (Q12791) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar at. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and published literature.
V61A (p.Val61Ala) variant details
- p.Val61Ala
- rs200420124
- ClinGen CA5568787
- ClinVar RCV000287363
- ClinVar RCV001557104
- Uncertain significance
- not provided; Generalized epilepsy-paroxysmal dyskinesia syndrome; Cerebellar at
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- REVEL 0.07
- CADD 24.80
- PolyPhen-2 0.79
- SIFT 0.07
- ClinVar: Uncertain significance (not provided; Generalized epilepsy-paroxysmal dyskinesia syndrom)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.0012)
- 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)