R27T (p.Arg27Thr) variant of SCN1A (P35498)
R27T (p.Arg27Thr) in SCN1A (P35498) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Early-infantile DEE; Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
R27T (p.Arg27Thr) variant details
- p.Arg27Thr
- rs121917906
- ClinGen CA266095
- ClinVar RCV000059458
- ClinVar RCV000585038
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.628
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases; not provided)
- EBI: Benign (in GEFSP2)
- UniProt: Benign (in GEFSP2)
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Cited in: Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus… (PMID 20729507)
- Cited in: Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. (PMID 10742094)