L13S (p.Leu13Ser) variant of NRXN1 (Neurexin-1)
L13S (p.Leu13Ser) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L13S (p.Leu13Ser) variant details
- p.Leu13Ser
- rs9636391
- gnomAD 2-49973972-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 20.40
- SIFT 0.65
- Most common in the HGDP:PIMA population (allele frequency 1)
- Structural context available
- Literature evidence available