S17L (p.Ser17Leu) variant of NRXN1 (Neurexin-1)
S17L (p.Ser17Leu) in NRXN1 (Neurexin-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
S17L (p.Ser17Leu) variant details
- p.Ser17Leu
- rs868375208
- NCI-TCGA Cosmic COSV6801
- cosmic curated COSV68016
- gnomAD rs868375208
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- REVEL 0.35
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.70
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.7e-05)
- Structural context available