P37S (p.Pro37Ser) variant of SCN1A (P35498)
P37S (p.Pro37Ser) in SCN1A (P35498) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
P37S (p.Pro37Ser) variant details
- p.Pro37Ser
- rs1468825512
- NCI-TCGA Cosmic COSV5766
- cosmic curated COSV57661
- gnomAD rs1468825512
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.8e-05)
- Structural context available