P37T (p.Pro37Thr) variant of SCN1A (P35498)
P37T (p.Pro37Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
P37T (p.Pro37Thr) variant details
- p.Pro37Thr
- rs1468825512
- ClinGen CA349243188
- ClinVar RCV006377219
- ClinVar RCV006466923
- Conflicting interpretations
- Early-infantile DEE; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.708
- CADD 21.20
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Early-infantile DEE; Inborn genetic diseases)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.3e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)