A25E (p.Ala25Glu) variant of NRXN1 (Neurexin-1)
A25E (p.Ala25Glu) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
A25E (p.Ala25Glu) variant details
- p.Ala25Glu
- cosmic curated COSV68048
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.49
- CADD 25.30
- PolyPhen-2 0.07
- SIFT 0.03
- Population evidence available
- Structural context available