G30E (p.Gly30Glu) variant of NRXN1 (Neurexin-1)
G30E (p.Gly30Glu) in NRXN1 (Neurexin-1) is a missense change. 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.
G30E (p.Gly30Glu) variant details
- p.Gly30Glu
- cosmic curated COSV10470
- Missense
- Variant Prioritization Score for Impact Estimate 0.703
- REVEL 0.66
- CADD 25.30
- PolyPhen-2 0.48
- SIFT 0.01
- Population evidence available
- Structural context available