E51Q (p.Glu51Gln) variant of NRXN1 (Neurexin-1)
E51Q (p.Glu51Gln) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E51Q (p.Glu51Gln) variant details
- p.Glu51Gln
- gnomAD rs1670896275
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.47
- CADD 23.20
- PolyPhen-2 0.13
- SIFT 0.57
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available