P6T (p.Pro6Thr) variant of CHRNA4 (P43681)
P6T (p.Pro6Thr) in CHRNA4 (P43681) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial sleep-related hypermotor epilepsy; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and published literature.
P6T (p.Pro6Thr) variant details
- p.Pro6Thr
- rs796052312
- ClinGen CA409645010
- ClinVar RCV000615300
- ClinVar RCV001036986
- Conflicting interpretations
- Familial sleep-related hypermotor epilepsy; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.12
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Familial sleep-related hypermotor epilepsy; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Cited in: Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. (PMID 20301348)