S54T (p.Ser54Thr) variant of NRXN2 (Neurexin-2)
S54T (p.Ser54Thr) in NRXN2 (Neurexin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
S54T (p.Ser54Thr) variant details
- p.Ser54Thr
- 1000Genomes rs1592311400
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.47
- MetaLR 0.44
- MetaSVM -0.19
- CADD 21.70
- SIFT 0.02
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available