D21N (p.Asp21Asn) variant of KCNA1 (Q09470)
D21N (p.Asp21Asn) in KCNA1 (Q09470) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Episodic ataxia type 1; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
D21N (p.Asp21Asn) variant details
- p.Asp21Asn
- rs747465523
- ClinGen CA6399337
- NCI-TCGA Cosmic COSV6683
- ClinVar RCV000992234
- Uncertain significance
- not provided; Episodic ataxia type 1; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.559
- REVEL 0.43
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.15
- ClinVar: Uncertain significance (not provided; Episodic ataxia type 1; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-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)