P34S (p.Pro34Ser) variant of NRXN1 (Neurexin-1)
P34S (p.Pro34Ser) in NRXN1 (Neurexin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
P34S (p.Pro34Ser) variant details
- p.Pro34Ser
- cosmic curated COSV10824
- TOPMed rs1228817558
- gnomAD rs1228817558
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- REVEL 0.25
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available