P76L (p.Pro76Leu) variant of SCN1A (P35498)
P76L (p.Pro76Leu) in SCN1A (P35498) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P76L (p.Pro76Leu) variant details
- p.Pro76Leu
- gnomAD rs1399391997
- Likely pathogenic
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.79
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Early-infantile DEE)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available