A21V (p.Ala21Val) variant of CACNA1A (O00555)
A21V (p.Ala21Val) in CACNA1A (O00555) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not spec. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
A21V (p.Ala21Val) variant details
- p.Ala21Val
- rs15999
- ClinGen CA9241108
- ClinVar RCV000444099
- ClinVar RCV000542201
- Benign
- Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42; not spec
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.37
- MetaLR 0.80
- MetaSVM 0.20
- CADD 23.00
- PolyPhen-2 0.30
- SIFT 0.01
- ClinVar: Benign (Episodic ataxia type 2; Developmental and epileptic encephalopat)
- EBI: Benign (in dbSNP:rs15999)
- UniProt: Benign (in dbSNP:rs15999)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- 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)