S29I (p.Ser29Ile) variant of NRXN1 (Neurexin-1)
S29I (p.Ser29Ile) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S29I (p.Ser29Ile) variant details
- p.Ser29Ile
- cosmic curated COSV10972
- ESP rs373013874
- TOPMed rs373013874
- gnomAD rs373013874
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.32
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available