P1360Q (p.Pro1360Gln) variant of CACNA1A (O00555)
P1360Q (p.Pro1360Gln) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42; n. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P1360Q (p.Pro1360Gln) variant details
- p.Pro1360Gln
- rs1064795800
- ClinGen CA16620785
- ClinVar RCV000479097
- ClinVar RCV005409657
- Likely pathogenic
- Spinocerebellar ataxia type 6; Developmental and epileptic encephalopathy, 42; n
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.80
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Spinocerebellar ataxia type 6; Developmental and epileptic encep)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)