P44S (p.Pro44Ser) variant of NRXN1 (Neurexin-1)
P44S (p.Pro44Ser) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
P44S (p.Pro44Ser) variant details
- p.Pro44Ser
- cosmic curated COSV10470
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.18
- CADD 20.70
- PolyPhen-2 0.07
- SIFT 0.85
- Population evidence available
- Structural context available