S29R (p.Ser29Arg) variant of NRXN1 (Neurexin-1)
S29R (p.Ser29Arg) in NRXN1 (Neurexin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pitt-Hopkins-like syndrome 2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
S29R (p.Ser29Arg) variant details
- p.Ser29Arg
- rs1670913788
- ClinGen CA346824746
- ClinVar RCV003621243
- Ensembl rs1670913788
- Uncertain significance
- Pitt-Hopkins-like syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.41
- CADD 20.60
- PolyPhen-2 0.07
- SIFT 0.17
- ClinVar: Uncertain significance (Pitt-Hopkins-like syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available