R1345Q (p.Arg1345Gln) variant of CACNA1A (O00555)
R1345Q (p.Arg1345Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Migraine. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data, published literature, and structural context.
R1345Q (p.Arg1345Gln) variant details
- p.Arg1345Gln
- rs121908230
- ClinGen CA254496
- cosmic curated COSV10820
- ClinVar RCV000009039
- Pathogenic/Likely pathogenic
- Developmental and epileptic encephalopathy, 42; Episodic ataxia type 2; Migraine
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- REVEL 0.98
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.03
- CADD 31.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Developmental and epileptic encephalopathy, 42; Episodic ataxia)
- EBI: Pathogenic (in FHM1)
- UniProt: Pathogenic (in FHM1)
- Most common in the 1KG:GIH population (allele frequency 0.0053)
- Structural context available
- Cited in: A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a… (PMID 15032980)
- Cited in: CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. (PMID 18400034)